NM_001943.5(DSG2):c.888C>T (p.Phe296=) AND Arrhythmogenic right ventricular dysplasia 10
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001474989.7
Allele description [Variation Report for NM_001943.5(DSG2):c.888C>T (p.Phe296=)]
NM_001943.5(DSG2):c.888C>T (p.Phe296=)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 10
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular cardiomyopathy, type 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193
-
Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (FCGR2C),...
Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (FCGR2C), transcript variant 1, mRNAgi|53292602|ref|NM_201563.2|Nucleotide
-
NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A [Homo sapiens]
NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A [Homo sapiens]gi|2198214303|ref|NP_998823.2|Protein
-
Intellectual developmental disorder with hypertelorism and distinctive facies
Intellectual developmental disorder with hypertelorism and distinctive faciesMedGen
-
C4748381[conceptid] (1)
MedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024