NM_000051.4(ATM):c.3771A>G (p.Pro1257=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766415.2
Allele description [Variation Report for NM_000051.4(ATM):c.3771A>G (p.Pro1257=)]
NM_000051.4(ATM):c.3771A>G (p.Pro1257=)
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
-
Pediatric ovarian germ cell tumor
Pediatric ovarian germ cell tumorMedGen
-
C0796664[conceptid] (1)
MedGen
-
LOC124410345 [Diprion similis]
LOC124410345 [Diprion similis]Gene ID:124410345Gene
-
ugt1a1 [Poecilia latipinna]
ugt1a1 [Poecilia latipinna]Gene ID:106959622Gene
-
LOC103640441 [Zea mays]
LOC103640441 [Zea mays]Gene ID:103640441Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024