NM_000020.3(ACVRL1):c.936C>G (p.His312Gln) AND Pulmonary hypertension, primary, 1
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000488872.2
Allele description [Variation Report for NM_000020.3(ACVRL1):c.936C>G (p.His312Gln)]
NM_000020.3(ACVRL1):c.936C>G (p.His312Gln)
Condition(s)
-
protein FAM168A isoform 2 [Mus musculus]
protein FAM168A isoform 2 [Mus musculus]gi|30520227|ref|NP_848879.1|Protein
-
Homo sapiens methylenetetrahydrofolate reductase (MTHFR), RefSeqGene (LRG_726) o...
Homo sapiens methylenetetrahydrofolate reductase (MTHFR), RefSeqGene (LRG_726) on chromosome 1gi|262331545|ref|NG_013351.1||gnl|L G_726Nucleotide
-
neuronal protein 22 [Rattus norvegicus]
neuronal protein 22 [Rattus norvegicus]gi|18252579|gb|AAL66341.1|AF459788_Protein
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Last Updated: Feb 20, 2024