Genomic variant #0000032658

Individual ID 00021694
Chromosome 7
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.66453470G>A
Reference -
DB-ID SBDS_000011 See all 3 reported entries
dbSNP ID rs1217811332
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 0.00052
Allele Count 3
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.641C>T r.(?) p.(Pro214Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001906 DNA SEQ-NG-I 1 - 44 Despoina Kalfakakou