NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter) AND Renal carnitine transport defect
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 18, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000674161.1
Allele description [Variation Report for NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)]
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)
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
-
Grade 4 Generalized Edema, CTCAE
Grade 4 Generalized Edema, CTCAEMedGen
-
TSA: Tetralonia malvae s7954_L_20247_0_a_37_0_l_1671 transcribed RNA sequence
TSA: Tetralonia malvae s7954_L_20247_0_a_37_0_l_1671 transcribed RNA sequencegi|1163964594|gb|GBNI01029714.1||gn :GBNI01|s7954_L_20247_0_a_37_0_l_1671Nucleotide
-
TSA: Tetralonia malvae s7939_L_20130_0_a_51_8_l_4102 transcribed RNA sequence
TSA: Tetralonia malvae s7939_L_20130_0_a_51_8_l_4102 transcribed RNA sequencegi|1163964611|gb|GBNI01029697.1||gn :GBNI01|s7939_L_20130_0_a_51_8_l_4102Nucleotide
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TSA: Tetralonia malvae s7924_L_20092_1_a_26_2_l_3115 transcribed RNA sequence
TSA: Tetralonia malvae s7924_L_20092_1_a_26_2_l_3115 transcribed RNA sequencegi|1163964627|gb|GBNI01029681.1||gn :GBNI01|s7924_L_20092_1_a_26_2_l_3115Nucleotide
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Last Updated: Nov 29, 2022