chr8:76984016:C>T Detail (hg38) (PEX2)

Information

Genome

Assembly Position
hg19 chr8:77,896,252-77,896,252 View the variant detail on this assembly version.
hg38 chr8:76,984,016-76,984,016

HGVS

Type Transcript Protein
RefSeq NM_000318.2:c.163G>A NP_000309.1:p.Glu55Lys
NM_001172087.1:c.163G>A NP_001165558.1:p.Glu55Lys
NM_001079867.1:c.163G>A NP_001073336.1:p.Glu55Lys
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic infantile Refsum disease germline MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-10-01 no assertion criteria provided Peroxisome biogenesis disorder 5B germline Detail
Likely pathogenic 2023-07-27 criteria provided, single submitter Peroxisome biogenesis disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Peroxisome biogenesis disorder 5B NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) AND Peroxisome biogenesis disorder 5B ClinVar Detail
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) AND Peroxisome biogenesis disorder 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
rs61752119 dbSNP
Genome
hg38
Position
chr8:76,984,016-76,984,016
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser