NM_022041.4(GAN):c.528A>G (p.Gln176=) AND Giant axonal neuropathy 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001425678.7
Allele description [Variation Report for NM_022041.4(GAN):c.528A>G (p.Gln176=)]
NM_022041.4(GAN):c.528A>G (p.Gln176=)
Condition(s)
-
Slc5a8 protein [Mus musculus]
Slc5a8 protein [Mus musculus]gi|17389275|gb|AAH17691.1|Protein
-
unnamed protein product, partial [Mus musculus]
unnamed protein product, partial [Mus musculus]gi|74208889|dbj|BAE21195.1|Protein
-
transcriptional enhancer factor TEF-4 isoform b [Mus musculus]
transcriptional enhancer factor TEF-4 isoform b [Mus musculus]gi|550822085|ref|NP_001272429.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024