NM_000376.3(VDR):c.1257C>G (p.Leu419=) AND VDR-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003908566.2
Allele description [Variation Report for NM_000376.3(VDR):c.1257C>G (p.Leu419=)]
NM_000376.3(VDR):c.1257C>G (p.Leu419=)
Condition(s)
- Name:
- VDR-related disorder
- Synonyms:
- VDR-related condition
- Identifiers:
-
Tessadori-Van Haaften neurodevelopmental syndrome 4
Tessadori-Van Haaften neurodevelopmental syndrome 4MedGen
-
C5677016[conceptid] (1)
MedGen
-
Valve disease - Cardiology Explained
Valve disease - Cardiology Explained
-
Wind-swept deformity of the knees
Wind-swept deformity of the kneesMedGen
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Last Updated: Oct 13, 2024