Genomic variant #0000024847

Individual ID 00017505
Chromosome 16
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3658703_3658705del
Reference -
DB-ID SLX4_000057 See all 3 reported entries
dbSNP ID -
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00052
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLX4 NM_032444.2 ./. - c.261_263del r.(?) p.(Arg87del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001163 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou