Variant #0000320532 (NC_000001.10:g.10678421G>A, PEX14(NM_004565.2):c.331G>A)

Chromosome 1
Allele Unknown
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.10678421G>A
DNA change (hg38) g.10618364G>A
Published as PEX14(NM_004565.2):c.331G>A (p.(Ala111Thr))
ISCN -
DB-ID PEX14_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX14 NM_004565.2 ?/. - c.331G>A r.(?) p.(Ala111Thr)