NM_000051.4(ATM):c.2057T>A (p.Leu686His) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000628044.9
Allele description [Variation Report for NM_000051.4(ATM):c.2057T>A (p.Leu686His)]
NM_000051.4(ATM):c.2057T>A (p.Leu686His)
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
-
RecName: Full=Fatty acid-binding protein, brain; AltName: Full=Brain lipid-bindi...
RecName: Full=Fatty acid-binding protein, brain; AltName: Full=Brain lipid-binding protein; Short=BLBP; AltName: Full=Brain-type fatty acid-binding protein; Short=B-FABP; AltName: Full=Fatty acid-binding protein 7gi|1706750|sp|P51880.2|FABP7_MOUSEProtein
-
essv16438312 (0)
BioProject
-
essv16437971 (0)
BioProject
-
essv16438344 (0)
Protein Family Models
-
nssv2795069 (0)
Nucleotide
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Last Updated: Sep 29, 2024