chr8:77896060:G>A Detail (hg19) (PEX2)

Information

Genome

Assembly Position
hg19 chr8:77,896,060-77,896,060
hg38 chr8:76,983,824-76,983,824 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001079867.1:c.355C>T NP_001073336.1:p.Arg119Ter
NM_000318.2:c.355C>T NP_000309.1:p.Arg119Ter
NM_001172087.1:c.355C>T NP_001165558.1:p.Arg119Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv33641417 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Zellweger syndrome germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
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 2024-01-07 criteria provided, multiple submitters, no conflicts Peroxisome biogenesis disorder 5A (Zellweger) germline unknown Detail
Pathogenic 2016-08-16 no assertion criteria provided Peroxisome biogenesis disorder 5B germline unknown Detail
Pathogenic 2017-03-31 criteria provided, single submitter Peroxisome biogenesis disorder germline Detail
Pathogenic 2020-09-16 no assertion criteria provided Zellweger spectrum disorders germline Detail
Pathogenic 2023-10-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-01-04 criteria provided, single submitter Peroxisome biogenesis disorder 5A (Zellweger),Peroxisome biogenesis disorder 5B unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter Peroxisome biogenesis disorder 5A (Zellweger),Peroxisome biogenesis disorder 5B unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Peroxisome biogenesis disorder 5B NA CLINVAR Detail
0.200 Peroxisome biogenesis disorder 5A (Zellweger) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND Peroxisome biogenesis disorder 5A (Zellweger) ClinVar Detail
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND Peroxisome biogenesis disorder 5B ClinVar Detail
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND Peroxisome biogenesis disorder ClinVar Detail
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND Zellweger spectrum disorders ClinVar Detail
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND not provided ClinVar Detail
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND multiple conditions ClinVar Detail
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND multiple conditions ClinVar Detail
NA DisGeNET 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
rs61752123 dbSNP
Genome
hg19
Position
chr8:77,896,060-77,896,060
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs61752123
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121366
Allele Counts in All Race (ExAC)
17
Heterozygous Counts in All Race (ExAC)
17
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4007217836955986E-4
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