NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) AND Spinocerebellar ataxia type 28
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jul 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000023378.8
Allele description [Variation Report for NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)]
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)
Condition(s)
-
carboxyl-terminal protease [Cellulophaga algicola DSM 14237]
carboxyl-terminal protease [Cellulophaga algicola DSM 14237]gi|319421621|gnl|jgi|Celal_1417|gb| 730.1|Protein
-
carboxyl-terminal protease [Dictyoglomus turgidum DSM 6724]
carboxyl-terminal protease [Dictyoglomus turgidum DSM 6724]gi|217336588|gnl|jgi|Dtur_1102|gb|A 81.1|Protein
-
putative CtpA-like serine protease [Bythopirellula goksoeyrii]
putative CtpA-like serine protease [Bythopirellula goksoeyrii]gi|1727545342|gnl|DSMZ|Pr1d_03560|g 33095.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 1, 2022