NM_000051.4(ATM):c.5703G>T (p.Leu1901Phe) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001344155.6
Allele description [Variation Report for NM_000051.4(ATM):c.5703G>T (p.Leu1901Phe)]
NM_000051.4(ATM):c.5703G>T (p.Leu1901Phe)
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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AV Block Second Degree Mobitz Type I by ECG Finding
AV Block Second Degree Mobitz Type I by ECG FindingMedGen
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Wandering atrial pacemaker
Wandering atrial pacemakerMedGen
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Homologene neighbors for GEO Profiles (Select 125840369) (0)
GEO Profiles
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OMIM Links for GEO Profiles (Select 14109358) (1)
OMIM
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Rheinheimera arenilitoris strain EWF1 16S ribosomal RNA gene, partial sequence
Rheinheimera arenilitoris strain EWF1 16S ribosomal RNA gene, partial sequencegi|1767042957|gb|MN582962.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024