Variant #0000296905 (NC_000001.10:g.10596341C>T, PEX14(NM_004565.2):c.156C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10596341C>T
DNA change (hg38) g.10536284C>T
Published as PEX14(NM_004565.2):c.156C>T (p.F52=)
ISCN -
DB-ID PEX14_000005
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) 0.2951 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX14 NM_004565.2 -/. - c.156C>T r.(?) p.(Phe52=)