Genomic variant #0000021178

Individual ID 00017069
Chromosome 7
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.66459273T>A
Reference -
DB-ID SBDS_000016 See all 2 reported entries
dbSNP ID rs120074160
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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SBDS NM_016038.2 +/+ - c.184A>T r.(?) p.(Lys62*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000798 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou