Variant #0000130233 (NC_000001.10:g.145517364_145517365del, PEX11B(NM_003846.2):c.148_149del)

Individual ID 00081035
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.145517364_145517365del
DNA change (hg38) g.145917724_145917725del
Published as -
ISCN -
DB-ID PEX11B_000001
Variant remarks -
Reference Trujillano et al., submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel Trujillano
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX11B NM_003846.2 +?/. - c.148_149del r.(?) p.(Ser50Profs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081147 DNA SEQ;SEQ-NG - - PEX11B 1 Daniel Trujillano