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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- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC related information was provided by the message!
- No CSPEC computer assertion could be determined for this classification!
- See Evidence submitted by expert panel for details.
Variant: NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA1251409
654211 (ClinVar)
Gene: SERPINC1
Condition: antithrombin III deficiency
Inheritance Mode: Autosomal dominant inheritance
UUID: 6fdd3bac-395e-4fdd-9e42-2c552b360524
Approved on: 2024-05-09
Published on: 2024-05-09
HGVS expressions
NM_000488.4:c.449A>C
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)
NC_000001.11:g.173911974T>G
CM000663.2:g.173911974T>G
NC_000001.10:g.173881112T>G
CM000663.1:g.173881112T>G
NC_000001.9:g.172147735T>G
NG_012462.1:g.10405A>C
ENST00000367698.4:c.449A>C
ENST00000367698.3:c.449A>C
ENST00000487183.1:n.154A>C
ENST00000617423.4:c.449A>C
NM_000488.3:c.449A>C
NM_001365052.1:c.305A>C
NM_001365052.2:c.305A>C
NM_001386302.1:c.449A>C
NM_001386303.1:c.530A>C
NM_001386304.1:c.449A>C
NM_001386305.1:c.449A>C
NM_001386306.1:c.409-1083A>C
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Evidence submitted by expert panel
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