PMCH c.59A>G ;(p.Q20R)

Variant ID: 12-102591490-T-C

NM_002674.2(PMCH):c.59A>G;(p.Q20R)

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:

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.

Bmc Medical Genetics
Maskoen, Ani Melani AM; Reniarti, Lelani L; Sahiratmadja, Edhyana E; Sisca, Joice J; Effendi, Sjarif Hidajat SH
Publication Date: 2019-08-09

Variant appearance in text: MCH: 59A>G
PubMed Link: 31399060
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_868.pdf
View BVdb publication page