chr4:84191112:C>T Detail (hg19) (COQ2)

Information

Genome

Assembly Position
hg19 chr4:84,191,112-84,191,112
hg38 chr4:83,269,959-83,269,959 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_015697.7:c.813G>A NP_056512.5:p.Trp271Ter
Ensemble ENST00000311461.7:c.663G>A ENST00000311461.7:p.Trp221Ter
ENST00000311469.9:c.813G>A ENST00000311469.9:p.Trp271Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 609825 OMIM
HGNC 25223 HGNC
Ensembl ENSG00000173085 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-05-19 criteria provided, single submitter multiple system atrophy paternal Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001358921.2(COQ2):c.663G>A (p.Trp221Ter) AND Multiple system atrophy 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
rs1735008495 dbSNP
Genome
hg19
Position
chr4:84,191,112-84,191,112
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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