chr1:40310285:T>C Detail (hg19) (TRIT1)

Information

Genome

Assembly Position
hg19 chr1:40,310,285-40,310,285
hg38 chr1:39,844,613-39,844,613 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001312691.1:c.956A>G NP_001299620.1:p.Tyr319Cys
NM_017646.5:c.1034A>G NP_060116.2:p.Tyr345Cys
NR_132401.1:c.1034A>G
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 617840 OMIM
HGNC 20286 HGNC
Ensembl ENSG00000043514 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000138)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-05-04 criteria provided, single submitter combined oxidative phosphorylation deficiency 35 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) AND Combined oxidative phosphorylation deficiency 35 ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2124577339 dbSNP
Genome
hg19
Position
chr1:40,310,285-40,310,285
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser