Variant ID: 1-45805566-G-A

NM_012222.2(MUTYH):c.36+325C>T

This variant was identified in 3 publications




Publications:


A Hereditable Mutation of MSH2 Gene Associated with Lynch Syndrome in a Five Generation Chinese Family.

Cancer Management And Research
WH Shao, CY Wang, LY Wang, F Xiao, DS Xiao, H Yang, XY Long, L Zhang, HG Luo, JY Yin, W Wu
Publication Date: 2020

Variant appearance in text: rs3219468
PubMed Link: 32161499
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
S Jia, M Zhang, Y Sun, H Yan, F Zhao, Z Li, J Ji
Publication Date: 2018-06-22

Variant appearance in text: rs3219468
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx
View BVdb publication page



MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Frontiers In Oncology
T Venesio, A Balsamo, VG D'Agostino, GN Ranzani
Publication Date: 2012

Variant appearance in text: rs3219468
PubMed Link: 22876359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.-7+82C>T - intron_variant - 1/15
ENST00000355498.2 c.-7+82C>T - intron_variant - 1/15
ENST00000372090.5 c.-359G>A - 5_prime_UTR_variant 1/8 -
ENST00000372098.3 c.36+325C>T - intron_variant - 1/15
ENST00000372100.5 c.-7+82C>T - intron_variant - 1/15
ENST00000372104.1 c.-157+5C>T - splice_region_variant,intron_variant - 1/16
ENST00000372110.3 c.36+325C>T - intron_variant - 1/15
ENST00000372115.3 c.36+325C>T - intron_variant - 1/15
ENST00000412971.1 c.36+325C>T - intron_variant - 1/6
ENST00000435155.1 c.-7+82C>T - intron_variant - 1/9
ENST00000448481.1 c.-7+5C>T - splice_region_variant,intron_variant - 1/15
ENST00000450313.1 c.36+325C>T - intron_variant - 1/15
ENST00000456914.2 c.-7+5C>T - splice_region_variant,intron_variant - 1/15
ENST00000461495.1 c.36+325C>T - intron_variant,NMD_transcript_variant - 1/9
ENST00000462387.1 n.214+325C>T - intron_variant,non_coding_transcript_variant - 1/2
ENST00000467940.1 c.52+309C>T - intron_variant,NMD_transcript_variant - 1/9
ENST00000470256.1 c.-7+82C>T - intron_variant,NMD_transcript_variant - 1/8
ENST00000474703.1 n.116+82C>T - intron_variant,non_coding_transcript_variant - 1/4
ENST00000475516.1 c.-7+82C>T - intron_variant,NMD_transcript_variant - 1/15
ENST00000476789.1 n.214+325C>T - intron_variant,non_coding_transcript_variant - 1/4
ENST00000479746.2 n.57+5C>T - splice_region_variant,intron_variant,non_coding_transcript_variant - 1/4
ENST00000481139.1 n.197+325C>T - intron_variant,non_coding_transcript_variant - 1/3
ENST00000481571.1 c.36+325C>T - intron_variant,NMD_transcript_variant - 1/15
ENST00000483127.1 c.-460+5C>T - splice_region_variant,intron_variant - 1/3
ENST00000483642.1 n.175+329C>T - intron_variant,non_coding_transcript_variant - 1/4
ENST00000485484.1 n.44+5C>T - splice_region_variant,intron_variant,non_coding_transcript_variant - 1/4
ENST00000488731.2 c.-7+82C>T - intron_variant - 1/6
ENST00000492494.1 n.57+5C>T - splice_region_variant,intron_variant,non_coding_transcript_variant - 1/4
ENST00000525160.1 c.36+325C>T - intron_variant,NMD_transcript_variant - 1/6
ENST00000528013.2 c.-7+5C>T - splice_region_variant,intron_variant - 1/15
ENST00000528332.2 c.36+325C>T - intron_variant - 1/6
ENST00000529984.1 c.-7+325C>T - intron_variant - 1/6
ENST00000531105.1 c.-7+82C>T - intron_variant - 1/2
ENST00000534453.1 n.260+82C>T - intron_variant,non_coding_transcript_variant - 1/1
NM_001048171.1 c.36+325C>T - intron_variant - 1/15
NM_001048172.1 c.-7+82C>T - intron_variant - 1/15
NM_001048173.1 c.-7+82C>T - intron_variant - 1/15
NM_001048174.1 c.-7+5C>T - splice_region_variant,intron_variant - 1/15
NM_001128425.1 c.36+325C>T - intron_variant - 1/15
NM_001293190.1 c.36+325C>T - intron_variant - 1/15
NM_001293191.1 c.-7+5C>T - splice_region_variant,intron_variant - 1/15
NM_001293192.1 c.-219+325C>T - intron_variant - 1/15
NM_001293195.1 c.-157+5C>T - splice_region_variant,intron_variant - 1/16
NM_001293196.1 c.-219+82C>T - intron_variant - 1/15
NM_001350650.1 c.-278+325C>T - intron_variant - 1/14
NM_001350651.1 c.-214+325C>T - intron_variant - 1/14
NM_012222.2 c.36+325C>T - intron_variant - 1/15
NR_146882.1 n.252+325C>T - intron_variant,non_coding_transcript_variant - 1/16
NR_146883.1 n.140+82C>T - intron_variant,non_coding_transcript_variant - 1/15
- - TF_binding_site_variant - -