NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) AND Spinocerebellar ataxia type 28
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000005804.6
Allele description [Variation Report for NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)]
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)
Condition(s)
-
F-box only protein 34 isoform X1 [Homo sapiens]
F-box only protein 34 isoform X1 [Homo sapiens]gi|1034587368|ref|XP_016876880.1|Protein
-
F-box only protein 34 [Homo sapiens]
F-box only protein 34 [Homo sapiens]gi|40807493|ref|NP_060413.2|Protein
-
Homo sapiens carbonic anhydrase 7 (CA7), transcript variant 1, mRNA
Homo sapiens carbonic anhydrase 7 (CA7), transcript variant 1, mRNAgi|1450192908|ref|NM_005182.3|Nucleotide
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Last Updated: Sep 24, 2022