Variant #0000502370 (NC_000001.10:g.10683091C>G, PEX14(NM_004565.2):c.400C>G)

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.10683091C>G
DNA change (hg38) g.10623034C>G
Published as PEX14(NM_004565.2):c.400C>G (p.L134V)
ISCN -
DB-ID PEX14_000010
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) 0.00152 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.400C>G r.(?) p.(Leu134Val)