NM_020433.5(JPH2):c.818C>T (p.Ala273Val) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003749902.1
Allele description
NM_020433.5(JPH2):c.818C>T (p.Ala273Val)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
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Homo sapiens RNA binding motif, single stranded interacting protein 2, mRNA (cDN...
Homo sapiens RNA binding motif, single stranded interacting protein 2, mRNA (cDNA clone MGC:34559 IMAGE:5202634), complete cdsgi|20379907|gb|BC027863.1|Nucleotide
-
Gene neighbors for Gene (Select 11173) (10)
Gene
-
Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X6 [Gallus gallus]
Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X6 [Gallus gallus]gi|2024481034|ref|XP_040546158.1|Protein
-
uncharacterized protein KIAA1671 isoform 2 [Homo sapiens]
uncharacterized protein KIAA1671 isoform 2 [Homo sapiens]gi|1905153028|ref|NP_001373861.1|Protein
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Last Updated: Feb 28, 2024