Variant ID: 1-45795076-T-TA

NM_012222.2(MUTYH):c.1542_1543insT;(p.Ser515*)

This variant was identified in 1 publication




Publications:


Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
MS DeRycke, S Gunawardena, JR Balcom, AM Pickart, LA Waltman, AJ French, S McDonnell, SM Riska, ZC Fogarty, MC Larson, S Middha, BW Eckloff, YW Asmann, MJ Ferber, RW Haile, S Gallinger, M Clendenning, C Rosty, AK Win, DD Buchanan, JL Hopper, PA Newcomb, L Le Marchand, EL Goode, NM Lindor, SN Thibodeau
Publication Date: 2017-09

Variant appearance in text: N/A
PubMed Link: 28944238
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.1470_1471insT p.Ser491* frameshift_variant 16/16 -
ENST00000355498.2 c.1467_1468insT p.Ser490* frameshift_variant 16/16 -
ENST00000372098.3 c.1542_1543insT p.Ser515* frameshift_variant 16/16 -
ENST00000372100.5 c.1500_1501insT p.Ser501* frameshift_variant 16/16 -
ENST00000372104.1 c.1467_1468insT p.Ser490* frameshift_variant 17/17 -
ENST00000372110.3 c.1512_1513insT p.Ser505* frameshift_variant 16/16 -
ENST00000372115.3 c.1509_1510insT p.Ser504* frameshift_variant 16/16 -
ENST00000448481.1 c.1500_1501insT p.Ser501* frameshift_variant 16/16 -
ENST00000450313.1 c.1551_1552insT p.Ser518* frameshift_variant 16/16 -
ENST00000456914.2 c.1467_1468insT p.Ser490* frameshift_variant 16/16 -
ENST00000467459.1 c.*329_*330insT - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000475516.1 c.*1280_*1281insT - 3_prime_UTR_variant,NMD_transcript_variant 16/16 -
ENST00000481571.1 c.*1280_*1281insT - 3_prime_UTR_variant,NMD_transcript_variant 16/16 -
ENST00000482094.1 n.788_789insT - non_coding_transcript_exon_variant 5/5 -
ENST00000485271.1 c.*210_*211insT - 3_prime_UTR_variant,NMD_transcript_variant 4/4 -
ENST00000488731.2 c.552_553insT p.Ser185* frameshift_variant 7/7 -
ENST00000528013.2 c.1509_1510insT p.Ser504* frameshift_variant 16/16 -
ENST00000528332.2 c.594_595insT p.Ser199* frameshift_variant 7/7 -
ENST00000529892.1 c.542_543insT p.Ser182* frameshift_variant 6/6 -
ENST00000529984.1 c.552_553insT p.Ser185* frameshift_variant 7/7 -
ENST00000531105.1 c.148_149insT p.Gln50Leufs*? frameshift_variant 3/3 -
ENST00000533178.1 c.*796_*797insT - 3_prime_UTR_variant,NMD_transcript_variant 10/10 -
NM_001048171.1 c.1509_1510insT p.Ser504* frameshift_variant 16/16 -
NM_001048172.1 c.1470_1471insT p.Ser491* frameshift_variant 16/16 -
NM_001048173.1 c.1467_1468insT p.Ser490* frameshift_variant 16/16 -
NM_001048174.1 c.1467_1468insT p.Ser490* frameshift_variant 16/16 -
NM_001128425.1 c.1551_1552insT p.Ser518* frameshift_variant 16/16 -
NM_001293190.1 c.1512_1513insT p.Ser505* frameshift_variant 16/16 -
NM_001293191.1 c.1500_1501insT p.Ser501* frameshift_variant 16/16 -
NM_001293192.1 c.1191_1192insT p.Ser398* frameshift_variant 16/16 -
NM_001293195.1 c.1467_1468insT p.Ser490* frameshift_variant 17/17 -
NM_001293196.1 c.1191_1192insT p.Ser398* frameshift_variant 16/16 -
NM_001350650.1 c.1122_1123insT p.Ser375* frameshift_variant 15/15 -
NM_001350651.1 c.1122_1123insT p.Ser375* frameshift_variant 15/15 -
NM_012222.2 c.1542_1543insT p.Ser515* frameshift_variant 16/16 -
NR_146882.1 n.1905_1906insT - non_coding_transcript_exon_variant 17/17 -
NR_146883.1 n.1719_1720insT - non_coding_transcript_exon_variant 16/16 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -