NM_000051.4(ATM):c.2051A>G (p.Gln684Arg) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000226670.12
Allele description [Variation Report for NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)]
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
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
-
nssv2790476 (0)
Taxonomy
-
nssv2788720 (0)
Books
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CrebieV218_P
CrebieV218_Pbiosample
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Pycnonotus sinensis formosae x Pycnonotus taivanus voucher TMAV3114 cytochrome b (CYTB) gene, complete cds; mitochondrialgi|2666924043|gb|PP213474.1|Nucleotide
-
Pycnonotus sinensis formosae voucher TBRI4004 cytochrome b (CYTB) gene, complete...
Pycnonotus sinensis formosae voucher TBRI4004 cytochrome b (CYTB) gene, complete cds; mitochondrialgi|2637941514|gb|OR941511.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024