HFE c.581T>C ;(p.L194S)

Variant ID: 6-26091782-T-C

NM_000410.3(HFE):c.581T>C;(p.L194S)

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:

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Orphanet Journal Of Rare Diseases
Kong, Xiaomu X; Xie, Lingding L; Zhu, Haiqing H; Song, Lulu L; Xing, Xiaoyan X; Yang, Wenying W; Chen, Xiaoping X
Publication Date: 2019-07-08

Variant appearance in text: HFE: 581T>C; Leu194Pro
PubMed Link: 31286966
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1097.pdf
View BVdb publication page