NM_000051.4(ATM):c.6808-3C>G AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001057026.14
Allele description [Variation Report for NM_000051.4(ATM):c.6808-3C>G]
NM_000051.4(ATM):c.6808-3C>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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RING finger protein B isoform X2 [Glycine max]
RING finger protein B isoform X2 [Glycine max]gi|571534737|ref|XP_006600595.1|Protein
-
Ostreococcus tauri strain:RCC4221
Ostreococcus tauri strain:RCC4221Ostreococcus tauri genomeBioProject
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Last Updated: Oct 20, 2024