NM_000051.4(ATM):c.6452+8G>A AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001475808.14
Allele description
NM_000051.4(ATM):c.6452+8G>A
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
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ceramide synthase 1 isoform X1 [Pan paniscus]
ceramide synthase 1 isoform X1 [Pan paniscus]gi|2490754427|ref|XP_054960154.1|Protein
-
ceramide synthase 1 isoform X3 [Pan paniscus]
ceramide synthase 1 isoform X3 [Pan paniscus]gi|1849061651|ref|XP_034801495.1|Protein
-
AAC50203 (0)
ClinVar
-
BB217544 RIKEN full-length enriched, adult male aorta and vein Mus musculus cDNA...
BB217544 RIKEN full-length enriched, adult male aorta and vein Mus musculus cDNA clone A530045E16 3', mRNA sequencegi|16353206|gnl|dbEST|9967695|dbj|B 44.2|Nucleotide
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transcription factor E2-alpha isoform 14 [Mus musculus]
transcription factor E2-alpha isoform 14 [Mus musculus]gi|1820735949|ref|NP_001365841.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024