Variant #0000933030 (NC_000009.11:g.100455949_100455950dup, NM_000380.3:c.266_267dup (XPA))

Individual ID 00436195
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.100455949_100455950dup
DNA change (hg38) g.97693667_97693668dup
Published as 266_267dupAA
ISCN -
DB-ID XPA_000011 See all 3 reported entries
Variant remarks -
Reference PubMed: Fassihi 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-08-31 14:14:49 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPA NM_000380.3 +/. - c.266_267dup r.(?) p.(Val90Lysfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000437678 DNA SEQ - - XPA 1 Johan den Dunnen


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