Variant #0000543950 (NC_000011.9:g.45935689C>G, PEX16(NM_057174.2):c.760G>C)

Chromosome 11
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.45935689C>G
DNA change (hg38) g.45914138C>G
Published as PEX16(NM_004813.3):c.760G>C (p.V254L)
ISCN -
DB-ID PEX16_000006
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) 0.01938 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_004813.2 -?/. - c.760G>C r.(?) p.(Val254Leu)
PEX16 NM_057174.2 -?/. - c.760G>C r.(?) p.(Val254Leu)