NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001869609.3
Allele description [Variation Report for NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met)]
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Stemonacanthus formosus (114376)
Nucleotide
-
Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1)...
Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), mRNAgi|27894375|ref|NM_006614.2|Nucleotide
-
"Aplasia/Hypoplasia of the middle phalanges of the hand"[Clinical... (10)
"Aplasia/Hypoplasia of the middle phalanges of the hand"[Clinical Features] OR 354674[uid]SearchMedGen
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Last Updated: Sep 29, 2024