Variant #0000648651 (NC_000012.11:g.7351610C>G, PEX5(NM_000319.4):c.452C>G)

Individual ID 00290794
Chromosome 12
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.7351610C>G
DNA change (hg38) g.7199014C>G
Published as -
ISCN -
DB-ID PEX5_000027
Variant remarks 13 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs200720523
Origin Germline
Segregation -
Frequency 13/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX5 NM_000319.4 ?/. - c.452C>G r.(?) p.(Pro151Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291962 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq