NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002424861.3
Allele description [Variation Report for NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr)]
NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
Profile neighbors for GEO Profiles (Select 111587542) (200)
GEO Profiles
-
ATP11B ATPase phospholipid transporting 11B (putative) [Homo sapiens]
ATP11B ATPase phospholipid transporting 11B (putative) [Homo sapiens]Gene ID:23200Gene
-
Gene Links for GEO Profiles (Select 96261342) (1)
Gene
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Autosomal dominant monocytopenia: polymorphonuclear leukocytes (RNeasy)
Autosomal dominant monocytopenia: polymorphonuclear leukocytes (RNeasy)Accession: GDS3819GEO DataSets
-
Related DataSets for GEO Profiles (Select 69054842) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024