IDS c.1288G>C ;(p.E430Q)

Variant ID: X-148564642-C-G

NM_000202.5(IDS):c.1288G>C;(p.E430Q)

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:

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: SIDS: E430Q
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page