Variant #0000622632 (NC_000011.9:g.45936170G>A, PEX16(NM_057174.2):c.526C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45936170G>A
DNA change (hg38) g.45914619G>A
Published as PEX16(NM_004813.3):c.526C>T (p.R176*)
ISCN -
DB-ID PEX16_000010
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 View details
Owner VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_004813.2 +/. - c.526C>T r.(?) p.(Arg176Ter)
PEX16 NM_057174.2 +/. - c.526C>T r.(?) p.(Arg176Ter)