Variant #0000647326 (NC_000001.10:g.10689678G>A, PEX14(NM_004565.2):c.768G>A)

Individual ID 00289469
Chromosome 1
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.10689678G>A
DNA change (hg38) g.10629621G>A
Published as -
ISCN -
DB-ID PEX14_000015 See all 2 reported entries
Variant remarks conflicting interpretations of pathogenicity; 30 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs36083022
Origin Germline
Segregation -
Frequency 30/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01109 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX14 NM_004565.2 ?/. - c.768G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290637 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq