Genomic variant #0000010490

Individual ID 00016573
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.14190228G>T
Reference -
DB-ID XPC_000021 See all 4 reported entries
dbSNP ID rs766223201
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 0.00068
Allele Count 4
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.2143C>A r.(?) p.(Pro715Thr)
XPC NM_004628.4 ?/? - c.2254C>A r.(?) p.(Pro752Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000277 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou