VWF c.4858C>T ;(p.P1620S)

Variant ID: 12-6127726-G-A

NM_000552.3(VWF):c.4858C>T;(p.P1620S)

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:

Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family.

Frontiers In Neuroscience
Chen, Qian Q; Zheng, Wen W; Xu, Hongbo H; Yang, Yan Y; Song, Zhi Z; Yuan, Lamei L; Deng, Hao H
Publication Date: 2021

Variant appearance in text: VWF: 4858C>T; P1620S
PubMed Link: 33746696
Variant Present in the following documents:
  • Table_1.pdf
View BVdb publication page