NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003605713.1
Allele description [Variation Report for NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu)]
NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu)
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
-
ST8SIA3 [Vulpes lagopus]
ST8SIA3 [Vulpes lagopus]Gene ID:121482141Gene
-
LOC109774234 [Aegilops tauschii]
LOC109774234 [Aegilops tauschii]Gene ID:109774234Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024