NM_004281.4(BAG3):c.1299G>A (p.Gln433=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002384650.2
Allele description [Variation Report for NM_004281.4(BAG3):c.1299G>A (p.Gln433=)]
NM_004281.4(BAG3):c.1299G>A (p.Gln433=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
proline/serine-rich coiled-coil protein 1 isoform X4 [Homo sapiens]
proline/serine-rich coiled-coil protein 1 isoform X4 [Homo sapiens]gi|2217271692|ref|XP_047288250.1|Protein
-
proline/serine-rich coiled-coil protein 1 isoform X1 [Homo sapiens]
proline/serine-rich coiled-coil protein 1 isoform X1 [Homo sapiens]gi|2462514608|ref|XP_054195202.1|Protein
-
PREDICTED: Homo sapiens proline and serine rich coiled-coil 1 (PSRC1), transcrip...
PREDICTED: Homo sapiens proline and serine rich coiled-coil 1 (PSRC1), transcript variant X7, mRNAgi|2217271672|ref|XM_047432251.1|Nucleotide
-
proline/serine-rich coiled-coil protein 1 isoform b [Homo sapiens]
proline/serine-rich coiled-coil protein 1 isoform b [Homo sapiens]gi|2017952505|ref|NP_001380933.1|Protein
-
PREDICTED: Homo sapiens proline and serine rich coiled-coil 1 (PSRC1), transcrip...
PREDICTED: Homo sapiens proline and serine rich coiled-coil 1 (PSRC1), transcript variant X14, mRNAgi|2217271683|ref|XM_047432274.1|Nucleotide
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Last Updated: Sep 29, 2024