Genomic variant #0000006537

Individual ID 00021129
Chromosome 9
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.100459453G>A
Reference -
DB-ID XPA_000001 See all 3 reported entries
dbSNP ID rs778289269
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00052
Allele Count 3
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPA NM_000380.3 ?/? - c.122C>T r.(?) p.(Ala41Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000179 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou