NM_000051.4(ATM):c.1986T>C (p.Phe662=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000122829.31
Allele description [Variation Report for NM_000051.4(ATM):c.1986T>C (p.Phe662=)]
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
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
-
Leishmania donovani hypothetical protein, conserved (LDBPK_290130), partial mRNA
Leishmania donovani hypothetical protein, conserved (LDBPK_290130), partial mRNAgi|398018532|ref|XM_003862383.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024