NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) AND Auditory neuropathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003483781.1
Allele description [Variation Report for NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)]
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)
Condition(s)
-
Cystic fibrosis pathology and 4-phenylbutyrate (HG-U133B)
Cystic fibrosis pathology and 4-phenylbutyrate (HG-U133B)Accession: GDS494GEO DataSets
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Related DataSets for GEO Profiles (Select 3524718) (1)
GEO DataSets
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Taxonomy Links for Nucleotide (Select 1433432447) (1)
Taxonomy
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Odevixibat - LiverTox
Odevixibat - LiverTox
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Profile neighbors for GEO Profiles (Select 9356678) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: May 1, 2024