NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp) AND Dilated cardiomyopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001256785.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp)]
NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp)
Condition(s)
- Name:
- Dilated cardiomyopathy 1A (CMD1A)
- Synonyms:
- CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200
-
FN806845 Homo sapiens brain (Mayer-2011) Homo sapiens cDNA clone HERVK_cDNA_clon...
FN806845 Homo sapiens brain (Mayer-2011) Homo sapiens cDNA clone HERVK_cDNA_clone_216, mRNA sequencegi|331748496|gnl|dbEST|74112935|emb 6845.1|Nucleotide
-
Human endogenous retrovirus HERV-K Endo-Rev2 mRNA, partial cds
Human endogenous retrovirus HERV-K Endo-Rev2 mRNA, partial cdsgi|4096481|gb|U32496.1|HEU32496Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 24, 2023