Variant #0000604629 (NC_000001.10:g.10555356A>T, PEX14(NM_004565.2):c.62A>T)

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.10555356A>T
DNA change (hg38) g.10495299A>T
Published as PEX14(NM_004565.2):c.62A>T (p.N21I)
ISCN -
DB-ID PEX14_000013
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX14 NM_004565.2 ?/. - c.62A>T r.(?) p.(Asn21Ile)