NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002343607.2
Allele description [Variation Report for NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)]
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
sodium-potassium ATPase alpha-subunit, partial [Heptacarpus futilirostris]
sodium-potassium ATPase alpha-subunit, partial [Heptacarpus futilirostris]gi|620695329|gb|AHY22419.1|Protein
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Last Updated: Sep 29, 2024