Variant #0000543945 (NC_000011.9:g.45931735G>C, PEX16(NM_057174.2):c.953-7C>G)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.45931735G>C
DNA change (hg38) g.45910184G>C
Published as PEX16(NM_004813.2):c.*70C>G (p.(=))
ISCN -
DB-ID C11orf94_000004
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) 0.00022 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C11orf94 NM_001080446.2 ?/. - c.-2939C>G r.(?) p.(=)
PEX16 NM_004813.2 ?/. - c.*70C>G r.(=) p.(=)
MAPK8IP1 NM_005456.3 ?/. - c.*4463G>C r.(=) p.(=)
PEX16 NM_057174.2 ?/. - c.953-7C>G r.(=) p.(=)