Variant #0000613340 (NC_000011.9:g.45936150C>T, PEX16(NM_057174.2):c.541+5G>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.45936150C>T
DNA change (hg38) g.45914599C>T
Published as PEX16(NM_004813.3):c.541+5G>A
ISCN -
DB-ID PEX16_000009
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) Variant not found in online data sets
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_004813.2 ?/. - c.541+5G>A r.spl? p.?
PEX16 NM_057174.2 ?/. - c.541+5G>A r.spl? p.?