NM_000051.4(ATM):c.6452+2T>C AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- May 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000675168.11
Allele description [Variation Report for NM_000051.4(ATM):c.6452+2T>C]
NM_000051.4(ATM):c.6452+2T>C
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
-
txid1977469[Organism:noexp] (1)
Identical Protein Groups
-
Moss metagenome isolate SUB_ICE, whole genome shotgun sequencing project
Moss metagenome isolate SUB_ICE, whole genome shotgun sequencing projectgi|2281506887|gb|JANFCS000000000.1| S010000000Nucleotide
-
BioSample Links for BioProject (Select 385857) (290)
BioSample
-
Assembly for Nucleotide (Select 2281506887) (1)
Assembly
-
MULTISPECIES: histidine--tRNA ligase [Methanothermobacter]
MULTISPECIES: histidine--tRNA ligase [Methanothermobacter]gi|850991231|ref|WP_048061190.1|Protein
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Last Updated: Jul 7, 2024