Genomic variant #0000023287

Individual ID 00021390
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.14199767T>C
Reference -
DB-ID XPC_000025 See all 3 reported entries
dbSNP ID rs563236303
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     
XPC NM_001145769.1 -/- - c.1505A>G r.(?) p.(Glu502Gly)
XPC NM_004628.4 -/- - c.1616A>G r.(?) p.(Glu539Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001005 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou