NM_001355436.2(SPTB):c.6175G>C (p.Ala2059Pro) AND Elliptocytosis 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004698742.1
Allele description [Variation Report for NM_001355436.2(SPTB):c.6175G>C (p.Ala2059Pro)]
NM_001355436.2(SPTB):c.6175G>C (p.Ala2059Pro)
Condition(s)
-
atypical CYS HIS rich thioredoxin 2 [Arabidopsis thaliana]
atypical CYS HIS rich thioredoxin 2 [Arabidopsis thaliana]gi|18417441|ref|NP_567831.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024