NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001800305.3
Allele description [Variation Report for NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)]
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homologene neighbors for GEO Profiles (Select 113708420) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 48624640) (164)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 48670975) (200)
GEO Profiles
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Related DataSets for GEO Profiles (Select 48624640) (1)
GEO DataSets
-
Insulin-resistant polycystic ovary syndrome: muscle
Insulin-resistant polycystic ovary syndrome: muscleAccession: GDS3104GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024