HR c.2593C>T ;(p.H865Y)

Variant ID: 8-21978246-G-A

NM_005144.4(HR):c.2593C>T;(p.H865Y)

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:

Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed.

Genes
Buckley, Reuben M RM; Gandolfi, Barbara B; Creighton, Erica K EK; Pyne, Connor A CA; Bouhan, Delia M DM; LeRoy, Michelle L ML; Senter, David A DA; Gobble, Johnny R JR; Abitbol, Marie M; Lyons, Leslie A LA; ,
Publication Date: 2020-06-22

Variant appearance in text: HR: 2593C>T
PubMed Link: 32580512
Variant Present in the following documents:
  • Main text
  • genes-11-00682.pdf
View BVdb publication page