Variant #0000604630 (NC_000001.10:g.10596336G>A, PEX14(NM_004565.2):c.151G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10596336G>A
DNA change (hg38) g.10536279G>A
Published as PEX14(NM_004565.2):c.151G>A (p.A51T)
ISCN -
DB-ID PEX14_000014
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX14 NM_004565.2 -?/. - c.151G>A r.(?) p.(Ala51Thr)