NM_006912.6(RIT1):c.376G>A (p.Asp126Asn) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004035388.1
Allele description [Variation Report for NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)]
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
EST216592 Normalized rat muscle, Bento Soares Rattus sp. cDNA clone RMUAZ56 3' e...
EST216592 Normalized rat muscle, Bento Soares Rattus sp. cDNA clone RMUAZ56 3' end, mRNA sequencegi|3710697|gnl|dbEST|1933208|gb|AI1 .1|Nucleotide
-
Homo sapiens ring finger protein 182 (RNF182), transcript variant 2, mRNA
Homo sapiens ring finger protein 182 (RNF182), transcript variant 2, mRNAgi|259013539|ref|NM_152737.3|Nucleotide
-
cytochrome b, partial (mitochondrion) [Megadyptes antipodes]
cytochrome b, partial (mitochondrion) [Megadyptes antipodes]gi|75354631|gb|ABA19036.1|Protein
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Last Updated: Oct 8, 2024