Variant #0000163610 (NC_000014.8:g.95583009_95583010del, NM_177438.2:c.1532_1533del (DICER1))

Individual ID 00100779
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.95583009_95583010del
DNA change (hg38) g.95116672_95116673del
Published as -
ISCN -
DB-ID DICER1_000108
Variant remarks -
Reference PubMed: Hill 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nancy Hamel
Database submission license No license selected
Created by Nancy Hamel
Date created 2015-11-05 01:40:08 +01:00 (CET)
Date last edited 2017-03-09 17:57:17 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DICER1 NM_177438.2 +/? 10 c.1532_1533del r.(?) p.(His511Argfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101203 DNA SEQ - - DICER1 1 Nancy Hamel


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