HR c.2091G>C ;(p.R697=)

Variant ID: 8-21980036-C-G

NM_005144.4(HR):c.2091G>C;(p.R697=)

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:

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.

European Journal Of Endocrinology
Saengkaew, Tansit T; Patel, Heena R HR; Banerjee, Kausik K; Butler, Gary G; Dattani, Mehul T MT; McGuigan, Michael M; Storr, Helen L HL; Willemsen, Ruben H RH; Dunkel, Leo L; Howard, Sasha R SR
Publication Date: 2021-10-08

Variant appearance in text: HR: 2091G>C
PubMed Link: 34403359
Variant Present in the following documents:
  • EJE-21-0387.pdf
View BVdb publication page