NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002348814.3
Allele description [Variation Report for NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)]
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
TMTC4 [Leptonychotes weddellii]
TMTC4 [Leptonychotes weddellii]Gene ID:102744713Gene
-
Rbis ribosomal biogenesis factor [Mus musculus]
Rbis ribosomal biogenesis factor [Mus musculus]Gene ID:69126Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024