PMCH c.4G>A ;(p.A2T)

Variant ID: 12-102591545-C-T

NM_002674.2(PMCH):c.4G>A;(p.A2T)

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:

First Observation of Hb South Florida [beta 1(NA1) Val>Met] in Turkey.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Aslanger, Ayça Dilruba AD; Akbulut, Aynur A; Tokgöz, Gül G; Türkmen, Sakine S; Yararbaş, Kanay K
Publication Date: 2013-06

Variant appearance in text: MCH: 4G>A
PubMed Link: 24385794
Variant Present in the following documents:
  • Main text
  • TJH-30-223.pdf
View BVdb publication page