NM_000051.4(ATM):c.2250+1G>A AND Ataxia-telangiectasia syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000702192.10
Allele description [Variation Report for NM_000051.4(ATM):c.2250+1G>A]
NM_000051.4(ATM):c.2250+1G>A
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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Nepeta teucriifolia isolate btd 1073 trnL-trnF intergenic spacer region, partial...
Nepeta teucriifolia isolate btd 1073 trnL-trnF intergenic spacer region, partial sequence; plastidgi|2544235987|gb|OR199260.1|Nucleotide
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Pityriasis
PityriasisA name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)...<br/>MeSH
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D010915 (1)
MeSH
-
H2A histone family, member B3 [Mus musculus]
H2A histone family, member B3 [Mus musculus]gi|528078359|ref|NP_001268460.1|Protein
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Last Updated: Oct 26, 2024