Genomic variant #0000030984

Individual ID 00021562
Chromosome 16
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.3656493C>T
Reference -
DB-ID SLX4_000048 See all 5 reported entries
dbSNP ID rs148547201
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
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLX4 NM_032444.2 ?/? - c.742G>A r.(?) p.(Glu248Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001743 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou