Variant #0000653472 (NC_000014.8:g.95579443G>A, NM_177438.2:c.2026C>T (DICER1))

Individual ID 00295594
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.95579443G>A
DNA change (hg38) g.95113106G>A
Published as -
ISCN -
DB-ID DICER1_000031 See all 3 reported entries
Variant remarks ACMG: PVS1,PM2,PP5; de Kock et al. 2014. Acta Neuropathol 128: 111
Reference -
ClinVar ID -
dbSNP ID rs878855246
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2020-03-18 10:49:28 +01:00 (CET)
Date last edited 2020-03-28 07:13:28 +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 +/. - c.2026C>T r.(?) p.(Arg676*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296764 DNA SEQ-NG-S - - - 1 Andreas Laner


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