NC_000023.10:g.(?_152954030)_(154005142_?)del AND Creatine transporter deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004582962.2
Allele description [Variation Report for NC_000023.10:g.(?_152954030)_(154005142_?)del]
NC_000023.10:g.(?_152954030)_(154005142_?)del
Condition(s)
- Name:
- Creatine transporter deficiency (CCDS1)
- Synonyms:
- Creatine deficiency, X-linked; Mental retardation , X-linked with seizures, short stature and midface hypoplasia; Mental retardation , X-linked, with creatine transport deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010305; MedGen: C1845862; Orphanet: 52503; OMIM: 300352
-
beta-fibrinogen, partial [Platysteira cyanea]
beta-fibrinogen, partial [Platysteira cyanea]gi|46810737|gb|AAT01683.1|Protein
-
translation elongation factor 1-alpha, partial [Craterium aureum]
translation elongation factor 1-alpha, partial [Craterium aureum]gi|2594592499|gb|WOF98964.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024