Genomic variant #0000026150

Individual ID 00021635
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.14206341G>C
Reference -
DB-ID XPC_000004 See all 7 reported entries
dbSNP ID rs184879571
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 0.00119
Allele Count 7
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_001145769.1 -/- - c.761C>G r.(?) p.(Ser254Cys)
XPC NM_004628.4 -/- - c.872C>G r.(?) p.(Ser291Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001313 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou