chr8:76983440:A>G Detail (hg38) (PEX2)

Information

Genome

Assembly Position
hg19 chr8:77,895,676-77,895,676 View the variant detail on this assembly version.
hg38 chr8:76,983,440-76,983,440

HGVS

Type Transcript Protein
RefSeq NM_000318.2:c.739T>C NP_000309.1:p.Cys247Arg
NM_001172087.1:c.739T>C NP_001165558.1:p.Cys247Arg
NM_001079867.1:c.739T>C NP_001073336.1:p.Cys247Arg
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 170993 OMIM
HGNC 9717 HGNC
Ensembl ENSG00000164751 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 2004-03-01 no assertion criteria provided Peroxisome biogenesis disorder 5A (Zellweger) germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.200 Peroxisome biogenesis disorder 5A (Zellweger) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) AND Peroxisome biogenesis disorder 5A (Zellweger) ClinVar Detail
NA DisGeNET 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
rs61752128 dbSNP
Genome
hg38
Position
chr8:76,983,440-76,983,440
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser