Variant #0000691067 (NC_000011.9:g.45935445C>T, PEX16(NM_057174.2):c.812G>A)

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.45935445C>T
DNA change (hg38) -
Published as PEX16(NM_004813.3):c.812G>A (p.R271Q)
ISCN -
DB-ID PEX16_000022
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) 2.0E-5 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_004813.2 ?/. - c.812G>A r.(?) p.(Arg271Gln)
PEX16 NM_057174.2 ?/. - c.812G>A r.(?) p.(Arg271Gln)