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_030621.4(DICER1):c.1880_1883del (p.Ile627fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA10586449
254298 (ClinVar)
Gene: DICER1
Condition: dicer1 syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 5419647c-c9b7-4b0b-bc83-ace48c868142
Approved on: 2022-05-18
Published on: 2022-07-08
HGVS expressions
NM_030621.4:c.1880_1883del
NM_030621.4(DICER1):c.1880_1883del (p.Ile627fs)
NC_000014.9:g.95115694_95115697del
CM000676.2:g.95115694_95115697del
NC_000014.8:g.95582031_95582034del
CM000676.1:g.95582031_95582034del
NC_000014.7:g.94651784_94651787del
NG_016311.1:g.46729_46732del
ENST00000343455.8:c.1880_1883del
ENST00000393063.6:c.1880_1883del
ENST00000526495.6:c.1880_1883del
ENST00000532939.3:c.1880_1883del
ENST00000556045.6:c.1880_1883del
ENST00000675995.1:c.*196_*199del
ENST00000343455.7:c.1880_1883del
ENST00000393063.5:c.1880_1883del
ENST00000526495.5:c.1880_1883del
ENST00000527414.5:c.1880_1883del
ENST00000532458.1:n.469_472del
ENST00000541352.5:c.1880_1883del
NM_001195573.1:c.1880_1883del
NM_001271282.2:c.1880_1883del
NM_001291628.1:c.1880_1883del
NM_177438.2:c.1880_1883del
NM_001271282.3:c.1880_1883del
NM_001291628.2:c.1880_1883del
NM_177438.3:c.1880_1883del
NM_001395677.1:c.1880_1883del
NM_001395678.1:c.1880_1883del
NM_001395679.1:c.1880_1883del
NM_001395680.1:c.1880_1883del
NM_001395682.1:c.1880_1883del
NM_001395683.1:c.1880_1883del
NM_001395684.1:c.1880_1883del
NM_001395685.1:c.1880_1883del
NM_001395686.1:c.1598_1601del
NM_001395687.1:c.1475_1478del
NM_001395688.1:c.1475_1478del
NM_001395689.1:c.1475_1478del
NM_001395690.1:c.1475_1478del
NM_001395691.1:c.1313_1316del
NM_001395692.1:c.1880_1883del
NM_001395693.1:c.1880_1883del
NM_001395694.1:c.1880_1883del
NM_001395695.1:c.1880_1883del
NM_001395696.1:c.1475_1478del
NM_001395697.1:c.197_200del
NM_001395698.1:c.1475_1478del
NR_172715.1:n.2298_2301del
NR_172716.1:n.2225_2228del
NR_172717.1:n.2392_2395del
NR_172718.1:n.2392_2395del
NR_172719.1:n.2225_2228del
NR_172720.1:n.2225_2228del
NM_177438.3(DICER1):c.1880_1883del (p.Ile627fs)
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Evidence submitted by expert panel
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