NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001805405.2
Allele description [Variation Report for NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)]
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Bifunctional inhibitor/lipid-transfer protein/seed storage 2S albumin superfami...
Bifunctional inhibitor/lipid-transfer protein/seed storage 2S albumin superfamily protein [Arabidopsis thaliana]Gene ID:827182Gene
-
At.71485 AND (alive[prop]) (1)
Gene
-
Alpha-L-fucosidase [Phocaeicola vulgatus]
Alpha-L-fucosidase [Phocaeicola vulgatus]gi|2032894066|gnl|IGS|INE85_01159|g 57144.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024