Variant ID: 1-45795040-C-G

NM_012222.2(MUTYH):c.1579G>C;(p.Asp527His)

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: rs147923905
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.1507G>C p.Asp503His missense_variant 16/16 -
ENST00000355498.2 c.1504G>C p.Asp502His missense_variant 16/16 -
ENST00000372098.3 c.1579G>C p.Asp527His missense_variant 16/16 -
ENST00000372100.5 c.1537G>C p.Asp513His missense_variant 16/16 -
ENST00000372104.1 c.1504G>C p.Asp502His missense_variant 17/17 -
ENST00000372110.3 c.1549G>C p.Asp517His missense_variant 16/16 -
ENST00000372115.3 c.1546G>C p.Asp516His missense_variant 16/16 -
ENST00000448481.1 c.1537G>C p.Asp513His missense_variant 16/16 -
ENST00000450313.1 c.1588G>C p.Asp530His missense_variant 16/16 -
ENST00000456914.2 c.1504G>C p.Asp502His missense_variant 16/16 -
ENST00000467459.1 c.*366G>C - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000475516.1 c.*1317G>C - 3_prime_UTR_variant,NMD_transcript_variant 16/16 -
ENST00000481571.1 c.*1317G>C - 3_prime_UTR_variant,NMD_transcript_variant 16/16 -
ENST00000482094.1 n.825G>C - non_coding_transcript_exon_variant 5/5 -
ENST00000485271.1 c.*247G>C - 3_prime_UTR_variant,NMD_transcript_variant 4/4 -
ENST00000488731.2 c.589G>C p.Asp197His missense_variant 7/7 -
ENST00000528013.2 c.1546G>C p.Asp516His missense_variant 16/16 -
ENST00000528332.2 c.631G>C p.Asp211His missense_variant 7/7 -
ENST00000529892.1 c.580G>C p.Asp194His missense_variant 6/6 -
ENST00000529984.1 c.589G>C p.Asp197His missense_variant 7/7 -
ENST00000531105.1 c.185G>C p.Gly62Ala missense_variant 3/3 -
ENST00000533178.1 c.*833G>C - 3_prime_UTR_variant,NMD_transcript_variant 10/10 -
NM_001048171.1 c.1546G>C p.Asp516His missense_variant 16/16 -
NM_001048172.1 c.1507G>C p.Asp503His missense_variant 16/16 -
NM_001048173.1 c.1504G>C p.Asp502His missense_variant 16/16 -
NM_001048174.1 c.1504G>C p.Asp502His missense_variant 16/16 -
NM_001128425.1 c.1588G>C p.Asp530His missense_variant 16/16 -
NM_001293190.1 c.1549G>C p.Asp517His missense_variant 16/16 -
NM_001293191.1 c.1537G>C p.Asp513His missense_variant 16/16 -
NM_001293192.1 c.1228G>C p.Asp410His missense_variant 16/16 -
NM_001293195.1 c.1504G>C p.Asp502His missense_variant 17/17 -
NM_001293196.1 c.1228G>C p.Asp410His missense_variant 16/16 -
NM_001350650.1 c.1159G>C p.Asp387His missense_variant 15/15 -
NM_001350651.1 c.1159G>C p.Asp387His missense_variant 15/15 -
NM_012222.2 c.1579G>C p.Asp527His missense_variant 16/16 -
NR_146882.1 n.1942G>C - non_coding_transcript_exon_variant 17/17 -
NR_146883.1 n.1756G>C - non_coding_transcript_exon_variant 16/16 -