Variant #0000543942 (NC_000011.9:g.45931646G>A, PEX16(NM_057174.2):c.1035C>T)

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.45931646G>A
DNA change (hg38) g.45910095G>A
Published as PEX16(NM_057174.2):c.1035C>T (p.H345=)
ISCN -
DB-ID C11orf94_000002 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) 0.00082 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.-2850C>T r.(?) p.(=)
PEX16 NM_004813.2 -?/. - c.*159C>T r.(=) p.(=)
MAPK8IP1 NM_005456.3 -?/. - c.*4374G>A r.(=) p.(=)
PEX16 NM_057174.2 -?/. - c.1035C>T r.(?) p.(His345=)