NM_000071.3(CBS):c.252C>T (p.Ile84=) AND HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002236348.14
Allele description [Variation Report for NM_000071.3(CBS):c.252C>T (p.Ile84=)]
NM_000071.3(CBS):c.252C>T (p.Ile84=)
Condition(s)
- Name:
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Identifiers:
- MedGen: C3150344
-
rho GTPase-activating protein 29 isoform X1 [Homo sapiens]
rho GTPase-activating protein 29 isoform X1 [Homo sapiens]gi|767906784|ref|XP_011540741.1|Protein
-
Homo sapiens caveolin 2 (CAV2), transcript variant 1, mRNA
Homo sapiens caveolin 2 (CAV2), transcript variant 1, mRNAgi|1519245031|ref|NM_001233.5|Nucleotide
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Last Updated: Oct 13, 2024