TXNDC15 c.635T>C ;(p.L212P)

Variant ID: 5-134229225-T-C

NM_024715.3(TXNDC15):c.635T>C;(p.L212P)

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:

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Molecular Genetics & Genomic Medicine
Ridnõi, Konstantin K; Šois, Marek M; Vaidla, Eve E; Pajusalu, Sander S; Kelder, Larissa L; Reimand, Tiia T; Õunap, Katrin K
Publication Date: 2019-05

Variant appearance in text: TXNDC15: 635T>C; Leu212Pro; rs760579409
PubMed Link: 30851085
Variant Present in the following documents:
  • Main text
  • MGG3-7-e614.pdf
View BVdb publication page