NM_006949.4(STXBP2):c.1606G>A (p.Val536Met) AND Familial hemophagocytic lymphohistiocytosis 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001295022.7
Allele description [Variation Report for NM_006949.4(STXBP2):c.1606G>A (p.Val536Met)]
NM_006949.4(STXBP2):c.1606G>A (p.Val536Met)
Condition(s)
-
emsy EMSY transcriptional repressor, BRCA2 interacting [Danio rerio]
emsy EMSY transcriptional repressor, BRCA2 interacting [Danio rerio]Gene ID:335889Gene
-
UDP-glucose dehydrogenase [Homo sapiens]
UDP-glucose dehydrogenase [Homo sapiens]gi|7025909|emb|CAB75891.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024