NM_000037.4(ANK1):c.*31C>T AND Hereditary spherocytosis type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001162505.4
Allele description [Variation Report for NM_000037.4(ANK1):c.*31C>T]
NM_000037.4(ANK1):c.*31C>T
Condition(s)
-
protein phosphatase 1 regulatory subunit 7 isoform X3 [Canis lupus familiaris]
protein phosphatase 1 regulatory subunit 7 isoform X3 [Canis lupus familiaris]gi|1953343881|ref|XP_038291946.1|Protein
-
Chain H, kDa chaperonin
Chain H, kDa chaperoningi|256599586|pdb|3E76|HProtein
-
Hemarthrosis
HemarthrosisBleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.<br/>Year introduced: 1967(1964)MeSH
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023