Variant #0000320949 (NC_000001.10:g.145516416C>T, PEX11B(NM_003846.2):c.16C>T)

Chromosome 1
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.145516416C>T
DNA change (hg38) g.145918673G>A
Published as PEX11B(NM_001184795.1):c.-228C>T (p.(=))
ISCN -
DB-ID PEX11B_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX11B NM_003846.2 ?/. - c.16C>T r.(?) p.(Arg6Cys)