NPEPPS c.757T>C ;(p.Y253H)

Variant ID: 17-45662974-T-C

NM_006310.3(NPEPPS):c.757T>C;(p.Y253H)

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:

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

American Journal Of Medical Genetics. Part A
Velasco, Harvy M HM; Ullah, Ehsan E; Martin, Angela M AM; Hufnagel, Robert B RB; Prada, Carlos E CE
Publication Date: 2020-10

Variant appearance in text: NPEPPS: 757T>C; Tyr253His
PubMed Link: 32783359
Variant Present in the following documents:
  • Main text
View BVdb publication page