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_000488.4(SERPINC1):c.408+4C>T
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA1251431
876601 (ClinVar)
Gene: SERPINC1
Condition: antithrombin III deficiency
Inheritance Mode: Autosomal dominant inheritance
UUID: 561e873f-4335-45d7-bae2-24cb46334c95
Approved on: 2023-07-25
Published on: 2023-09-29
HGVS expressions
NM_000488.4:c.408+4C>T
NM_000488.4(SERPINC1):c.408+4C>T
NC_000001.11:g.173914549G>A
CM000663.2:g.173914549G>A
NC_000001.10:g.173883687G>A
CM000663.1:g.173883687G>A
NC_000001.9:g.172150310G>A
NG_012462.1:g.7830C>T
ENST00000367698.4:c.408+4C>T
ENST00000367698.3:c.408+4C>T
ENST00000487183.1:n.113+4C>T
ENST00000494024.1:n.634+4C>T
ENST00000617423.4:c.408+4C>T
NM_000488.3:c.408+4C>T
NM_001365052.1:c.264+4C>T
NM_001365052.2:c.264+4C>T
NM_001386302.1:c.408+4C>T
NM_001386303.1:c.489+4C>T
NM_001386304.1:c.408+4C>T
NM_001386305.1:c.408+4C>T
NM_001386306.1:c.408+4C>T
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Evidence submitted by expert panel
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