Variant ID: 12-102590850-C-T

NM_002674.2(PMCH):c.349G>A;(p.Glu117Lys)

This variant was identified in 1 publication




Publications:


C-Window Peaks on CE-HPLC are Extremely Rare in Northern India, and Only Infrequently Represent HbC.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion
J Dass, S Mittal, A Saraf, J Kotwal
Publication Date: 2018-01

Variant appearance in text: MCH: 349G>A
PubMed Link: 29398805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000327680.2 c.*781C>T - 3_prime_UTR_variant 12/12 -
ENST00000329406.4 c.349G>A p.Glu117Lys missense_variant 2/3 -
ENST00000378128.3 c.*1049C>T - 3_prime_UTR_variant 7/7 -
ENST00000412715.2 c.*1049C>T - 3_prime_UTR_variant 6/6 -
ENST00000417507.2 c.*1113C>T - 3_prime_UTR_variant 7/7 -
ENST00000457614.2 c.*1835C>T - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000535811.1 n.1176C>T - non_coding_transcript_exon_variant 2/2 -
NM_001319988.1 c.*781C>T - 3_prime_UTR_variant 12/12 -
NM_001319993.1 c.*781C>T - 3_prime_UTR_variant 12/12 -
NM_001319994.1 c.*781C>T - 3_prime_UTR_variant 11/11 -
NM_002674.4 c.349G>A p.Glu117Lys missense_variant 2/3 -
NM_017915.4 c.*781C>T - 3_prime_UTR_variant 11/11 -
NR_135123.1 n.1720C>T - non_coding_transcript_exon_variant 5/5 -