Genomic variant #0000044301

Individual ID 00022116
Chromosome 14
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.95566155C>G
Reference -
DB-ID DICER1_000052 See all 2 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00034
Allele Count 2
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DICER1 NM_001195573.1 ./. - c.4168G>C r.(?) p.(Asp1390His)
DICER1 NM_001271282.1 ./. - c.4168G>C r.(?) p.(Asp1390His)
DICER1 NM_030621.3 ./. - c.4168G>C r.(?) p.(Asp1390His)
DICER1 NM_177438.2 ./. - c.4168G>C r.(?) p.(Asp1390His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007614 DNA SEQ-NG-I 1 - 55 Stevi Xera