NM_000371.4(TTR):c.116C>A (p.Ala39Asp) AND Cardiovascular phenotype
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002331319.2
Allele description
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Profile neighbors for GEO Profiles (Select 79203830) (4)
GEO Profiles
-
GAREM2 GRB2 associated regulator of MAPK1 subtype 2 [Homo sapiens]
GAREM2 GRB2 associated regulator of MAPK1 subtype 2 [Homo sapiens]Gene ID:150946Gene
-
RNA for Nucleotide (Select 1933347773) (602)
Nucleotide
-
unconventional myosin-IXa isoform X12 [Homo sapiens]
unconventional myosin-IXa isoform X12 [Homo sapiens]gi|2462544221|ref|XP_054233979.1|Protein
-
Related DataSets for GEO Profiles (Select 86220457) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024