NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002407270.2
Allele description [Variation Report for NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp)]
NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Ugt35C1 [Drosophila erecta]
Ugt35C1 [Drosophila erecta]Gene ID:6551896Gene
-
Nucleotide Links for Protein (Select 2217312968) (2)
Nucleotide
-
CLN8 CLN8 transmembrane ER and ERGIC protein [Homo sapiens]
CLN8 CLN8 transmembrane ER and ERGIC protein [Homo sapiens]Gene ID:2055Gene
-
Gene Links for GEO Profiles (Select 125846925) (1)
Gene
-
ARHGEF10 Rho guanine nucleotide exchange factor 10 [Homo sapiens]
ARHGEF10 Rho guanine nucleotide exchange factor 10 [Homo sapiens]Gene ID:9639Gene
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Last Updated: Oct 8, 2024