Variant #0000320950 (NC_000001.10:g.145518169C>G, PEX11B(NM_003846.2):c.271C>G)

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.145518169C>G
DNA change (hg38) g.145916920G>C
Published as PEX11B(NM_001184795.1):c.229C>G (p.(Leu77Val))
ISCN -
DB-ID PEX11B_000003
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.271C>G r.(?) p.(Leu91Val)