NM_152783.5(D2HGDH):c.685-9T>C AND D-2-hydroxyglutaric aciduria 1
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000345166.14
Allele description [Variation Report for NM_152783.5(D2HGDH):c.685-9T>C]
NM_152783.5(D2HGDH):c.685-9T>C
Condition(s)
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Marinobacter lipolyticus BF04_CF-4 genomic scaffold A3OIDRAFT_scaffold_0.1, whol...
Marinobacter lipolyticus BF04_CF-4 genomic scaffold A3OIDRAFT_scaffold_0.1, whole genome shotgun sequencegi|482583315|gnl|WGS:ARCR01|A3OIDRA affold_0.1|gb|KB889827.1|Nucleotide
-
Calpain
CalpainCysteine proteinase found in many tissues. Hydrolyzes a variety of endogenous proteins including NEUROPEPTIDES; CYTOSKELETAL PROTEINS; proteins from SMOOTH MUSCLE; CARDIAC MUS...<br/>Year introduced: 1986MeSH
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See more...Assertion and evidence details
Last Updated: May 7, 2024