NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val) AND VPS13B-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003955509.2
Allele description [Variation Report for NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val)]
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val)
Condition(s)
- Name:
- VPS13B-related disorder
- Synonyms:
- VPS13B-related condition
- Identifiers:
-
Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-is...
Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNAgi|1519315884|ref|NM_000198.4|Nucleotide
-
sciellin isoform 2 [Homo sapiens]
sciellin isoform 2 [Homo sapiens]gi|238908497|ref|NP_003834.3|Protein
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Last Updated: Oct 13, 2024