VANGL1 c.249G>C ;(p.S83=)

Variant ID: 1-116206326-G-C

NM_138959.2(VANGL1):c.249G>C;(p.S83=)

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:

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Bmc Musculoskeletal Disorders
Li, Ziquan Z; Zhao, Sen S; Cai, Siyi S; Zhang, Yuanqiang Y; Wang, Lianlei L; Niu, Yuchen Y; Li, Xiaoxin X; Hu, Jianhua J; Chen, Jingdan J; Wang, Shengru S; Wang, Huizi H; Liu, Gang G; Tian, Ye Y; Wu, Zhihong Z; Zhang, Terry Jianguo TJ; , ; Wang, Yipeng Y; Wu, Nan N
Publication Date: 2020-04-11

Variant appearance in text: VANGL1: Ser83=
PubMed Link: 32278351
Variant Present in the following documents:
  • Main text
View BVdb publication page