NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004000194.2
Allele description [Variation Report for NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)]
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
-
SRX4083307 (1)
SRA
-
Acheilognathus deignani isolate Adei early growth response 3 (EGR3) gene, partia...
Acheilognathus deignani isolate Adei early growth response 3 (EGR3) gene, partial cdsgi|528790450|gb|KF460172.1|Nucleotide
-
unnamed protein product, partial [Homo sapiens]
unnamed protein product, partial [Homo sapiens]gi|193786270|dbj|BAG51553.1|Protein
-
aquaporin-12B isoform X6 [Homo sapiens]
aquaporin-12B isoform X6 [Homo sapiens]gi|767919355|ref|XP_011509978.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024