NM_000051.4(ATM):c.7987G>T (p.Val2663Phe) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003605364.3
Allele description [Variation Report for NM_000051.4(ATM):c.7987G>T (p.Val2663Phe)]
NM_000051.4(ATM):c.7987G>T (p.Val2663Phe)
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
-
PIGK [Papio anubis]
PIGK [Papio anubis]Gene ID:101010642Gene
-
B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 [Canis lupu...
B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 [Canis lupus familiaris]Gene ID:102154559Gene
-
LGALS2 [Ursus americanus]
LGALS2 [Ursus americanus]Gene ID:123780733Gene
-
mgat4c [Cyprinodon tularosa]
mgat4c [Cyprinodon tularosa]Gene ID:119798056Gene
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Last Updated: Sep 29, 2024