NM_005629.4(SLC6A8):c.144C>G (p.Ala48=) AND Creatine transporter deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001394257.8
Allele description [Variation Report for NM_005629.4(SLC6A8):c.144C>G (p.Ala48=)]
NM_005629.4(SLC6A8):c.144C>G (p.Ala48=)
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
-
Fanconi anemia group J protein isoform X6 [Homo sapiens]
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Homo sapiens kallikrein related peptidase 13 (KLK13), transcript variant 8, non-...
Homo sapiens kallikrein related peptidase 13 (KLK13), transcript variant 8, non-coding RNAgi|1676452752|ref|NR_145467.2|Nucleotide
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Last Updated: Sep 29, 2024