Variant ID: 3-197748424-A-C


This variant was identified in 1 publication


Three Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial Function.

Bioresearch Open Access
R Iida, M Ueki, J Fujihara, H Takeshita, K Kimura-Kataoka, T Yasuda
Publication Date: 2013-12-01

Variant appearance in text: Msp: Leu491Phe
PubMed Link: 24380054
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.1473A>C p.Leu491Phe missense_variant 13/16 -
ENST00000332636.5 c.1317A>C p.Leu439Phe missense_variant 13/16 -
ENST00000420910.2 c.1584A>C p.Leu528Phe missense_variant 14/17 -
ENST00000451139.2 n.2075A>C - non_coding_transcript_exon_variant 13/16 -
ENST00000482695.1 c.1428A>C p.Leu476Phe missense_variant 14/17 -
NM_001136049.2 c.1584A>C p.Leu528Phe missense_variant 14/17 -
NM_033029.3 c.1473A>C p.Leu491Phe missense_variant 13/16 -
NR_026786.2 n.1468A>C - non_coding_transcript_exon_variant 14/17 -
NR_026787.2 n.1357A>C - non_coding_transcript_exon_variant 13/16 -