CP c.1084T>G ;(p.S362A)

Variant ID: 3-148924079-A-C

NM_000096.3(CP):c.1084T>G;(p.S362A)

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:

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.

Jimd Reports
Sun, Jun J; McGillivray, Angela J AJ; Pinner, Jason J; Yan, Zhihui Z; Liu, Fengxia F; Bratkovic, Drago D; Thompson, Elizabeth E; Wei, Xiuxiu X; Jiang, Huifeng H; Asan, ; Chopra, Maya M
Publication Date: 2017

Variant appearance in text: CP: 1084T>G
PubMed Link: 27469131
Variant Present in the following documents:
  • Main text
View BVdb publication page