Genomic variant #0000031266

Individual ID 00021583
Chromosome 14
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.95590658A>C
Reference -
DB-ID DICER1_000084
dbSNP ID rs899404083
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 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DICER1 NM_001195573.1 ?/? - c.1251T>G r.(?) p.(Asp417Glu)
DICER1 NM_001271282.1 ?/? - c.1251T>G r.(?) p.(Asp417Glu)
DICER1 NM_030621.3 ?/? - c.1251T>G r.(?) p.(Asp417Glu)
DICER1 NM_177438.2 ?/? - c.1251T>G r.(?) p.(Asp417Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001766 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou