Genomic variant #0000014632

Individual ID 00016719
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.3639549_3639550del
Reference -
DB-ID SLX4_000031 See all 5 reported entries
dbSNP ID -
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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLX4 NM_032444.2 +/+ - c.4089_4090del r.(?) p.(Asp1365Profs*26)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000377 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou