Genomic variant #0000019631

Individual ID 00016916
Chromosome 3
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.14190078C>T
Reference -
DB-ID XPC_000011 See all 5 reported entries
dbSNP ID rs200148127
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 0.00087
Allele Count 5
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.2293G>A r.(?) p.(Gly765Ser)
XPC NM_004628.4 ?/? - c.2404G>A r.(?) p.(Gly802Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000672 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou