The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_177438.2(DICER1):c.5276A>G (p.Lys1759Arg)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA158282
133974 (ClinVar)
Gene: DICER1
Condition: dicer1 syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 13d61f90-d123-45d2-ac7d-9354e09e66d5
Approved on: 2022-05-18
Published on: 2022-07-08
HGVS expressions
NM_177438.2:c.5276A>G
NM_177438.2(DICER1):c.5276A>G (p.Lys1759Arg)
NC_000014.9:g.95093976T>C
CM000676.2:g.95093976T>C
NC_000014.8:g.95560313T>C
CM000676.1:g.95560313T>C
NC_000014.7:g.94630066T>C
NG_016311.1:g.68447A>G
ENST00000343455.8:c.5276A>G
ENST00000393063.6:c.5276A>G
ENST00000526495.6:c.5276A>G
ENST00000556045.6:c.5276A>G
ENST00000675540.1:n.3021A>G
ENST00000675995.1:c.*3592A>G
ENST00000343455.7:c.5276A>G
ENST00000393063.5:c.5276A>G
ENST00000526495.5:c.5276A>G
ENST00000527414.5:c.5276A>G
ENST00000541352.5:c.5276A>G
ENST00000556045.5:c.1970A>G
NM_001195573.1:c.5276A>G
NM_001271282.2:c.5276A>G
NM_001291628.1:c.5276A>G
NM_030621.4:c.5276A>G
NM_001271282.3:c.5276A>G
NM_001291628.2:c.5276A>G
NM_177438.3:c.5276A>G
NM_001395677.1:c.5276A>G
NM_001395678.1:c.5276A>G
NM_001395679.1:c.5276A>G
NM_001395680.1:c.5276A>G
NM_001395682.1:c.5276A>G
NM_001395683.1:c.5276A>G
NM_001395684.1:c.5276A>G
NM_001395685.1:c.5276A>G
NM_001395686.1:c.4994A>G
NM_001395687.1:c.4871A>G
NM_001395688.1:c.4871A>G
NM_001395689.1:c.4871A>G
NM_001395690.1:c.4871A>G
NM_001395691.1:c.4709A>G
NM_001395697.1:c.3593A>G
NR_172715.1:n.5694A>G
NR_172716.1:n.5878A>G
NR_172717.1:n.5788A>G
NR_172718.1:n.5711A>G
NR_172719.1:n.5544A>G
NR_172720.1:n.5621A>G
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg)
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Evidence submitted by expert panel
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