NM_005159.4(ACTC1):c.*1262G>C AND Dilated cardiomyopathy 1R
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001121209.13
Allele description [Variation Report for NM_005159.4(ACTC1):c.*1262G>C]
NM_005159.4(ACTC1):c.*1262G>C
Condition(s)
-
Homo sapiens activin A receptor type 1B (ACVR1B), transcript variant 1, mRNA
Homo sapiens activin A receptor type 1B (ACVR1B), transcript variant 1, mRNAgi|298231234|ref|NM_004302.4|Nucleotide
-
Chain A, THYMIDINE KINASE
Chain A, THYMIDINE KINASEgi|49258343|pdb|1OF1|AProtein
-
Chain A, Fis1
Chain A, Fis1gi|62738615|pdb|1Y8M|AProtein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024