Genomic variant #0000029098

Individual ID 00020898
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.14209830G>A
Reference -
DB-ID XPC_000053
dbSNP ID rs755825264
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 0.00017
Allele Count 1
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.406-54C>T r.(=) p.(=)
XPC NM_004628.4 +/+ - c.463C>T r.(?) p.(Arg155*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001568 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou