Genomic variant #0000016983

Individual ID 00016770
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.55597987C>T
Reference -
DB-ID KIT_000009 See all 18 reported entries
dbSNP ID rs72549295
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 0.00313
Allele Count 18
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIT NM_000222.2 ?/? - c.2234-50C>T r.(=) p.(=)
KIT NM_001093772.1 ?/? - c.2222-50C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000460 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou