NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000176897.17
Allele description [Variation Report for NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)]
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Profile neighbors for GEO Profiles (Select 65186254) (87)
GEO Profiles
-
GABRA2[gene] (283)
ClinVar
-
gamma-aminobutyric acid receptor subunit alpha-2 isoform X1 [Homo sapiens]
gamma-aminobutyric acid receptor subunit alpha-2 isoform X1 [Homo sapiens]gi|2462596183|ref|XP_054205512.1|Protein
-
gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor [Homo sapie...
gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor [Homo sapiens]gi|1061214217|ref|NP_001317619.1|Protein
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Last Updated: Sep 29, 2024