Genomic variant #0000017973

Individual ID 00016817
Chromosome 7
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.66460278C>A
Reference -
DB-ID SBDS_000007 See all 11 reported entries
dbSNP ID rs147652512
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 0.00186
Allele Count 11
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SBDS NM_016038.2 -?/-? - c.127G>T r.(?) p.(Val43Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000533 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou