Genomic variant #0000026833

Individual ID 00020717
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.55593622T>A
Reference -
DB-ID KIT_000016 See all 10 reported entries
dbSNP ID rs780708976
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 0.0024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIT NM_000222.2 ?/? - c.1688T>A r.(?) p.(Ile563Lys)
KIT NM_001093772.1 ?/? - c.1676T>A r.(?) p.(Ile559Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001369 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou