Genomic variant #0000027763

Individual ID 00020213
Chromosome 3
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.14189426A>G
Reference -
DB-ID XPC_000038 See all 6 reported entries
dbSNP ID rs201597537
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 0.00104
Allele Count 6
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_001145769.1 -/- - c.2385T>C r.(=) p.(=)
XPC NM_004628.4 -/- - c.2496T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001450 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou