Variant #0000502372 (NC_000001.10:g.10684484C>G, PEX14(NM_004565.2):c.575C>G)

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.10684484C>G
DNA change (hg38) g.10624427C>G
Published as PEX14(NM_004565.2):c.575C>G (p.A192G)
ISCN -
DB-ID PEX14_000012
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) 0.00066 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.575C>G r.(?) p.(Ala192Gly)