NM_002047.4(GARS1):c.1031+14T>G AND Neuronopathy, distal hereditary motor, type 5A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000293057.13
Allele description [Variation Report for NM_002047.4(GARS1):c.1031+14T>G]
NM_002047.4(GARS1):c.1031+14T>G
Condition(s)
-
Homo sapiens splicing factor, arginine/serine-rich 12, mRNA (cDNA clone MGC:1330...
Homo sapiens splicing factor, arginine/serine-rich 12, mRNA (cDNA clone MGC:133045 IMAGE:40008558), complete cdsgi|85662677|gb|BC112343.1|Nucleotide
-
Chain C1, Photosystem II CP43 reaction center protein
Chain C1, Photosystem II CP43 reaction center proteingi|2015435319|pdb|4YUU|C1Protein
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024