Genomic variant #0000036419

Individual ID 00018834
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.55597550C>T
Reference -
DB-ID KIT_000071
dbSNP ID rs992027457
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 0.00017
Allele Count 1
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.2198C>T r.(?) p.(Pro733Leu)
KIT NM_001093772.1 ?/? - c.2186C>T r.(?) p.(Pro729Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002253 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou