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 computer assertion could be determined for this classification!
Variant: NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA384904367
694309 (ClinVar)
Gene: SCN8A
Condition: complex neurodevelopmental disorder
Inheritance Mode: Autosomal dominant inheritance
UUID: 3d72f96d-dfa8-4992-81f0-bf6b4b511a81
Approved on: 2024-05-09
Published on: 2024-05-09
HGVS expressions
NM_001330260.2:c.3953A>G
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser)
NC_000012.12:g.51786552A>G
CM000674.2:g.51786552A>G
NC_000012.11:g.52180336A>G
CM000674.1:g.52180336A>G
NC_000012.10:g.50466603A>G
NG_021180.2:g.200317A>G
NG_021180.3:g.201595A>G
ENST00000354534.11:c.3953A>G
ENST00000548086.3:c.1747A>G
ENST00000627620.5:c.3953A>G
ENST00000636945.2:c.2017A>G
ENST00000662684.1:c.3953A>G
ENST00000668547.1:c.3830A>G
ENST00000354534.10:c.3953A>G
ENST00000355133.7:c.3830A>G
ENST00000545061.5:c.3830A>G
ENST00000548086.1:n.204A>G
ENST00000599343.5:c.3986A>G
ENST00000627620.2:c.3953A>G
NM_001177984.2:c.3830A>G
NM_014191.3:c.3953A>G
NM_001330260.1:c.3953A>G
NM_001369788.1:c.3830A>G
NM_014191.4:c.3953A>G
NM_001177984.3:c.3830A>G
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Evidence submitted by expert panel
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