NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002228638.1
Allele description [Variation Report for NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)]
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
110027[uid] (1)
Taxonomy
-
MAGUK p55 subfamily member 3 isoform X5 [Homo sapiens]
MAGUK p55 subfamily member 3 isoform X5 [Homo sapiens]gi|1034599802|ref|XP_016880147.1|Protein
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Last Updated: Sep 29, 2024