NM_000051.4(ATM):c.6420C>G (p.Phe2140Leu) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001990620.12
Allele description [Variation Report for NM_000051.4(ATM):c.6420C>G (p.Phe2140Leu)]
NM_000051.4(ATM):c.6420C>G (p.Phe2140Leu)
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
-
Homo sapiens gon-4 like (GON4L), transcript variant 3, mRNA
Homo sapiens gon-4 like (GON4L), transcript variant 3, mRNAgi|1756477777|ref|NM_001282860.2|Nucleotide
-
Mus musculus Rho GTPase activating protein 24, mRNA (cDNA clone MGC:38175 IMAGE:...
Mus musculus Rho GTPase activating protein 24, mRNA (cDNA clone MGC:38175 IMAGE:5321985), complete cdsgi|19344077|gb|BC025502.1|Nucleotide
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Last Updated: Oct 26, 2024