The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_001100.4(ACTA1):c.809-13dup
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA147047
93551 (ClinVar)
Gene: ACTA1
Condition: alpha-actinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 65ec9b04-e271-4829-9803-389c2b75987b
Approved on: 2024-08-07
Published on: 2024-12-19
HGVS expressions
NM_001100.4:c.809-13dup
NM_001100.4(ACTA1):c.809-13dup
NC_000001.11:g.229431915dup
CM000663.2:g.229431915dup
NC_000001.10:g.229567662dup
CM000663.1:g.229567662dup
NC_000001.9:g.227634285dup
NG_006672.1:g.7183dup
ENST00000366683.4:c.809-12dup
ENST00000684723.1:c.674-12dup
ENST00000366683.3:c.480-52dup
ENST00000366684.7:c.809-12dup
NM_001100.3:c.809-12dup
NM_001100.4:c.809-12dup
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Evidence submitted by expert panel
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