NM_000051.4(ATM):c.2047C>T (p.His683Tyr) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001856137.6
Allele description [Variation Report for NM_000051.4(ATM):c.2047C>T (p.His683Tyr)]
NM_000051.4(ATM):c.2047C>T (p.His683Tyr)
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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Mus musculus ribonucleotide reductase M2 (Rrm2), mRNA
Mus musculus ribonucleotide reductase M2 (Rrm2), mRNAgi|237512999|ref|NM_009104.2|Nucleotide
-
Rattus norvegicus organic anion transporter K12 mRNA, complete cds, alternativel...
Rattus norvegicus organic anion transporter K12 mRNA, complete cds, alternatively splicedgi|19071456|gb|AF446004.1|Nucleotide
-
Homo sapiens chromosome 14 open reading frame 100, mRNA (cDNA clone MGC:13382 IM...
Homo sapiens chromosome 14 open reading frame 100, mRNA (cDNA clone MGC:13382 IMAGE:4109351), complete cdsgi|14714465|gb|BC010359.1|Nucleotide
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Homo sapiens cDNA FLJ14685 fis, clone NT2RP2004936
Homo sapiens cDNA FLJ14685 fis, clone NT2RP2004936gi|14042370|dbj|AK027591.1|Nucleotide
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Homo sapiens cDNA FLJ11621 fis, clone HEMBA1004143
Homo sapiens cDNA FLJ11621 fis, clone HEMBA1004143gi|10432917|dbj|AK021683.1|Nucleotide
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Last Updated: Sep 29, 2024