Variant #0000543954 (NC_000011.9:g.45937267C>T, PEX16(NM_057174.2):c.346=)

Chromosome 11
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.45937267C>T
DNA change (hg38) g.45915716C>T
Published as PEX16(NM_004813.3):c.346G>A (p.V116I)
ISCN -
DB-ID PEX16_000014 See all 2 reported entries
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) 0.99999 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.346= r.(=) p.(Ile116=)
PEX16 NM_057174.2 -/. - c.346= r.(=) p.(Ile116=)