HPS5 c.266A>G ;(p.Y89C)

Variant ID: 11-18332952-T-C

NM_181507.1(HPS5):c.266A>G;(p.Y89C)

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:

Interstitial Lung Disease in Rare Congenital Syndromes.

Journal Of Mother And Child
Jezela-Stanek, Aleksandra A
Publication Date: 2020-07-29

Variant appearance in text: HPS5: 266A>G; Tyr89Cys
PubMed Link: 33074183
Variant Present in the following documents:
  • jmotherandchild-24-047.pdf
View BVdb publication page