NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly) AND Renal carnitine transport defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002286677.2
Allele description [Variation Report for NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly)]
NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly)
Condition(s)
- Name:
- Renal carnitine transport defect (CDSP)
- Synonyms:
- CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Primary carnitine deficiency; Carnitine uptake defect; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008919; MedGen: C0342788; Orphanet: 158; OMIM: 212140
-
S41 family peptidase [Spirosoma oryzicola]
S41 family peptidase [Spirosoma oryzicola]gi|2168319612|gnl|PRJNA784328|LQ777 5|gb|UHG92691.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Nov 29, 2022