NM_000051.4(ATM):c.8397_8398delinsAA (p.Phe2799_Gln2800delinsLeuLys) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002025806.13
Allele description [Variation Report for NM_000051.4(ATM):c.8397_8398delinsAA (p.Phe2799_Gln2800delinsLeuLys)]
NM_000051.4(ATM):c.8397_8398delinsAA (p.Phe2799_Gln2800delinsLeuLys)
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
-
Enterococcus faecalis strain OO_6 16S ribosomal RNA gene, partial sequence
Enterococcus faecalis strain OO_6 16S ribosomal RNA gene, partial sequencegi|1956971217|gb|MW481698.1|Nucleotide
-
LOC103490530 [Cucumis melo]
LOC103490530 [Cucumis melo]Gene ID:103490530Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 18, 2024