NM_000051.4(ATM):c.2590A>C (p.Ser864Arg) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000471464.9
Allele description [Variation Report for NM_000051.4(ATM):c.2590A>C (p.Ser864Arg)]
NM_000051.4(ATM):c.2590A>C (p.Ser864Arg)
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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21N23 Harland stage 19-23 Xenopus laevis cDNA Xenopus laevis cDNA clone 21N23 5'...
21N23 Harland stage 19-23 Xenopus laevis cDNA Xenopus laevis cDNA clone 21N23 5' similar to Xenopus laevis otx-2, 5' end, mRNA sequencegi|13198837|gnl|dbEST|8042138|gb|BG 9.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024