Genomic variant #0000014858

Individual ID 00019307
Chromosome 4
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.55593437G>A
Reference -
DB-ID KIT_000024 See all 2 reported entries
dbSNP ID rs55792975
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 0.00034
Allele Count 2
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIT NM_000222.2 ?/? - c.1594G>A r.(?) p.(Val532Ile)
KIT NM_001093772.1 ?/? - c.1582G>A r.(?) p.(Val528Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000383 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou