Variant #0000647325 (NC_000001.10:g.10659333T>G, PEX14(NM_004565.2):c.208T>G)

Individual ID 00289468
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.10659333T>G
DNA change (hg38) g.10599276T>G
Published as -
ISCN -
DB-ID PEX14_000009
Variant remarks 12 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs77261230
Origin Germline
Segregation -
Frequency 12/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00237 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.208T>G r.(?) p.(Ser70Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290636 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq