Genomic variant #0000033819

Individual ID 00017874
Chromosome 4
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.55603455A>G
Reference -
DB-ID KIT_000067
dbSNP ID rs369450271
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.2802+9A>G r.(=) p.(=)
KIT NM_001093772.1 -?/-? - c.2790+9A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001994 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou