NM_000051.4(ATM):c.1644C>T (p.Thr548=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003607523.2
Allele description [Variation Report for NM_000051.4(ATM):c.1644C>T (p.Thr548=)]
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
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
-
PDZ domain-containing protein [Streptomyces inhibens]
PDZ domain-containing protein [Streptomyces inhibens]gi|2193897793|gnl|PRJNA730323|KI385 5|gb|UKY50549.1|Protein
-
LOC105799075 [Gossypium raimondii]
LOC105799075 [Gossypium raimondii]Gene ID:105799075Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024