Variant ID: 12-102591545-C-T

NM_002674.2(PMCH):c.4G>A;(p.Ala2Thr)

This variant was identified in 1 publication




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
AD Aslanger, A Akbulut, G Tokgöz, S Türkmen, K Yararbaş
Publication Date: 2013-06

Variant appearance in text: MCH: 4G>A
PubMed Link: 24385794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.4G>A p.Ala2Thr missense_variant 1/3 -
NM_002674.4 c.4G>A p.Ala2Thr missense_variant 1/3 -