NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002713469.2
Allele description [Variation Report for NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys)]
NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Trisetum laconicum (0)
GEO DataSets
-
splicing factor, arginine/serine-rich 6 [Mus musculus]
splicing factor, arginine/serine-rich 6 [Mus musculus]gi|148674361|gb|EDL06308.1||gnl|WGS |mCP5876Protein
-
Chain A, CHECKPOINT KINASE 2
Chain A, CHECKPOINT KINASE 2gi|282403557|pdb|2WTJ|AProtein
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Last Updated: Sep 29, 2024