The UMD-APC mutations database
Mid-intronic mutations (65 records)

    Request ID: 636544031

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
IVS1-82A>C (36-82A>C)	c.IVS1-82A>C (c.136-82A>C)	2			Dimerization domain	UV	French MMR network	27/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2930 19_21938---21938-001 UV - 19
IVS2-11A>G (21-11A>G)	c.IVS2-11A>G (c.221-11A>G)	2-3				UV	French MMR network	27/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2591 10_------1966P UV - 10
IVS2-29G>C (21-29G>C)	c.IVS2-29G>C (c.221-29G>C)	3				UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5800 19_25250---25250.001 UV - 19
IVS4-14del3 (32-14del3)	c.IVS4-14del3 (c.532-14del3)	5				Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2913 19_11979---11979.001 Neutral - 19
IVS5+32C>T (45+32C>T)	c.IVS5+32C>T (c.645+32C>T)	5				Neutral	unvalidated	00/00/00	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2941 19_18015---18015.001 Neutral - 19 2942 19_19581---19581.001 Neutral - 19 2943 19_16325---16325.001 Neutral - 19 2944 19_20909---20909.001 Neutral - 19 2945 19_20972---20972.001 Neutral - 19 2946 19_21781---21781-001 Neutral - 19 2947 19_20906---20906.001 Neutral - 19 2948 19_19668---19668.001 Neutral - 19 2949 19_16325---16325.001 Neutral - 19 2950 19_17507---17507.001 Neutral - 19
IVS5+42C>T (45+42C>T)	c.IVS5+42C>T (c.645+42C>T)	5				Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3440 37_F07.1084150--- Neutral - 37
IVS5+61C>T (45+61C>T)	c.IVS5+61C>T (c.645+61C>T)	5				Likely Neutral	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2953 19_9307---9307.001 Likely Neutral - 19 2954 19_20262---20262-001 Likely Neutral - 19 2955 19_20907---20907-001 Likely Neutral - 19 2956 19_9307---9307.001 Likely Neutral - 19
IVS6-19G>C (30-19G>C)	c.IVS6-19G>C (c.730-19G>C)	7				UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2914 19_12709---12709.001 UV - 19 2915 19_12709---12709.001 UV - 19
IVS6-29A>T (30-29A>T)	c.IVS6-29A>T (c.730-29A>T)	7				Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2919 19_19208---19208.001 Neutral - 19 3195 33_SAT203---09-1172 Neutral - 33
IVS7-24A>T (35-24A>T)	c.IVS7-24A>T (c.835-24A>T)	8				Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2916 19_20989---20989.001 Neutral - 19 2917 19_20989---20989.001 Neutral - 19
IVS8+30A>G (33+30A>G)	c.IVS8+30A>G (c.933+30A>G)	8				Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3204 33_PSL3243---10-1056 Neutral - 33 3205 33_PSL2476---09-662, Neutral - 33
IVS8-118G>T (34-118G>T)	c.IVS8-118G>T (c.934-118G>T)	9				UV	French MMR network	27/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2895 19_20620---20620-001 UV - 19
IVS8-119C>G (34-119C>G)	c.IVS8-119C>G (c.934-119C>G)	9				Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2896 19_22484---22484-001 Neutral - 19 2897 19_23084---23084-001 Neutral - 19 2898 19_24119---24119-001 Neutral - 19
IVS8-120G>C (34-120G>C)	c.IVS8-120G>C (c.934-120G>C)	9				Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2899 19_22484---22484-001 Neutral - 19 2900 19_23084---23084-001 Neutral - 19 2901 19_24119---24119-001 Neutral - 19
IVS8-132G>T (34-132G>T)	c.IVS8-132G>T (c.934-132G>T)	9				Likely Neutral	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2902 19_22049---22049-001 Likely Neutral - 19 2903 19_21569---21569-001 Likely Neutral - 19 2904 19_21938---21938-001 Likely Neutral - 19 2905 19_20912---20912-001 Likely Neutral - 19 2906 19_21484---21484-001 Likely Neutral - 19 2907 19_22207---22207-001 Likely Neutral - 19 2908 19_20387---20387-001 Likely Neutral - 19 2909 19_21807---21807-001 Likely Neutral - 19 2910 19_22256---22256-001 Likely Neutral - 19 2911 19_22484---22484-001 Likely Neutral - 19 2912 19_24119---24119-001 Likely Neutral - 19
IVS8-92G>C (34-92G>C)	c.IVS8-92G>C (c.934-92G>C)	9				Likely Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5757 19_22079---22079-001 Likely Neutral - 19 2934 19_20762---20762-001 Likely Neutral - 19 2935 19_23568---23568-001 Likely Neutral - 19
IVS9+27G>A (312+27G>A)	c.IVS9+27G>A (c.1312+27G>A)	9-10				Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2937 19_15089---15089-001 Neutral - 19 2938 19_13817---13817.001 Neutral - 19 2939 19_13969---13969.001 Neutral - 19
IVS9-61A>G (313-61A>G)	c.IVS9-61A>G (c.1313-61A>G)	9-10				Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2926 19_15193---15193.001 Neutral - 19 2927 19_15193---15193.001 Neutral - 19
IVS13+78A>G (743+78A>G)	c.IVS13+78A>G (c.1743+78A>G)	13			ASEF binding domain ARM3	Neutral	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2957 19_8997---8997.001 Neutral - 19 2958 19_12379---12379.001 Neutral - 19 2959 19_14291---14291.001 Neutral - 19 2960 19_19208---19208.001 Neutral - 19 2961 19_19912---19112.001 Neutral - 19
IVS14+54A>C (958+54A>C)	c.IVS14+54A>C (c.1958+54A>C)	14-15			ASEF binding domain ARM5	Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2951 19_22207---22207-001 Neutral - 19 2952 19_23140---23140-001 Neutral - 19
IVS14-270del1059 (959-270del1059)	c.IVS14-270del1059 (c.1959-270del1059)	14-15			ASEF binding domain ARM5	Causal	French MMR network	4/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5750 19_1091110911.00110911.001 Causal - 19
IVS14-270del3017 (959-270del3017)	c.IVS14-270del3017 (c.1959-270del3017)	14-15			ASEF binding domain ARM5	Causal	French MMR network	27/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2918 19_10911---10911.001 Causal - 19
IVS14-58T>C (959-58T>C)	c.IVS14-58T>C (c.1959-58T>C)	14-15				UV	French MMR network	27/02/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2922 19_14619---14619.001 UV - 19 2923 19_14619---14619.001 UV - 19 2924 19_14619---14619.002 UV - 19