NM_000051.4(ATM):c.6976-3_6976-2insT AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000458913.14
Allele description [Variation Report for NM_000051.4(ATM):c.6976-3_6976-2insT]
NM_000051.4(ATM):c.6976-3_6976-2insT
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
-
CR431883 XGC-tailbud Xenopus tropicalis cDNA clone TTbA055e09 5', mRNA sequence
CR431883 XGC-tailbud Xenopus tropicalis cDNA clone TTbA055e09 5', mRNA sequencegi|48925292|gnl|dbEST|23795885|emb| 883.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024