HP c.110C>T ;(p.P37L)

Variant ID: 16-72090450-C-T

NM_005143.3(HP):c.110C>T;(p.P37L)

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:

Familial secondary erythrocytosis due to increased oxygen affinity is caused by destabilization of the T state of hemoglobin Brigham (α₂β₂(Pro100Leu)).

Protein Science : A Publication Of The Protein Society
Mollan, Todd L TL; Abraham, Bindu B; Strader, Michael Brad MB; Jia, Yiping Y; Lozier, Jay N JN; Olson, John S JS; Alayash, Abdu I AI
Publication Date: 2012-10

Variant appearance in text: HP: P37L
PubMed Link: 22821886
Variant Present in the following documents:
  • Main text
View BVdb publication page