NM_000051.4(ATM):c.6096-20T>G AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001999901.13
Allele description [Variation Report for NM_000051.4(ATM):c.6096-20T>G]
NM_000051.4(ATM):c.6096-20T>G
Condition(s)
- Name:
- Ataxia-telangiectasia syndrome (AT)
- Synonyms:
- Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900
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Homologene neighbors for GEO Profiles (Select 109707293) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 109698242) (0)
GEO Profiles
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Taxonomy Links for GEO DataSets (Select 5015) (1)
Taxonomy
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Modified natural and stimulated in vitro fertilization cycles: cumulus cells
Modified natural and stimulated in vitro fertilization cycles: cumulus cellsAccession: GDS5015GEO DataSets
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Related DataSets for GEO Profiles (Select 109699526) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Jul 7, 2024