MLH1 c.1057del ;(p.A353Lfs*14)

Variant ID: 3-37067146-TG-T

NM_000249.3(MLH1):c.1057del;(p.A353Lfs*14)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology
Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH
Publication Date: 2022-02

Variant appearance in text: MLH1: 1057delG; Ala353fs
PubMed Link: 34848827
Variant Present in the following documents:
  • Main text
  • 41374_2021_Article_694.pdf
View BVdb publication page


Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology
Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH
Publication Date: 2021-11-30

Variant appearance in text: MLH1: 1057delG; Ala353fs
PubMed Link: 34848827
Variant Present in the following documents:
  • Main text
  • 41374_2021_Article_694.pdf
View BVdb publication page