NM_000051.4(ATM):c.8786+6_8786+9dup AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000982643.18
Allele description [Variation Report for NM_000051.4(ATM):c.8786+6_8786+9dup]
NM_000051.4(ATM):c.8786+6_8786+9dup
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
-
NADH dehydrogenase subunit 5, partial (chloroplast) [Cordia collococca]
NADH dehydrogenase subunit 5, partial (chloroplast) [Cordia collococca]gi|582987624|gb|AHI48955.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024