Variant #0000502986 (NC_000001.10:g.145517353G>A, PEX11B(NM_003846.2):c.137G>A)

Chromosome 1
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.145517353G>A
DNA change (hg38) g.145917736C>T
Published as PEX11B(NM_003846.2):c.137G>A (p.R46Q)
ISCN -
DB-ID PEX11B_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX11B NM_003846.2 -?/. - c.137G>A r.(?) p.(Arg46Gln)