NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) AND SLC45A2-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003408040.4
Allele description [Variation Report for NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)]
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)
Condition(s)
- Name:
- SLC45A2-related disorder
- Synonyms:
- SLC45A2-related condition
- Identifiers:
-
Saccharomyces cerevisiae S288C ribosomal 40S subunit protein S5 (RPS5), partial ...
Saccharomyces cerevisiae S288C ribosomal 40S subunit protein S5 (RPS5), partial mRNAgi|296146128|ref|NM_001181781.1|Nucleotide
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Taxonomy Links for GEO Profiles (Select 49006425) (1)
Taxonomy
-
Taxonomy Links for GEO Profiles (Select 49016444) (1)
Taxonomy
-
Taxonomy Links for Nucleotide (Select 403065404) (1)
Taxonomy
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GSE45951[ACCN] AND gsm[ETYP] (88)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024