Variant #0000543943 (NC_000011.9:g.45931647T>G, PEX16(NM_057174.2):c.1034A>C)

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.45931647T>G
DNA change (hg38) g.45910096T>G
Published as PEX16(NM_057174.2):c.1034A>C (p.H345P)
ISCN -
DB-ID C11orf94_000003
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) 0.00391 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C11orf94 NM_001080446.2 -/. - c.-2851A>C r.(?) p.(=)
PEX16 NM_004813.2 -/. - c.*158A>C r.(=) p.(=)
MAPK8IP1 NM_005456.3 -/. - c.*4375T>G r.(=) p.(=)
PEX16 NM_057174.2 -/. - c.1034A>C r.(?) p.(His345Pro)