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NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) AND Carnitine palmitoyl transferase 1A deficiency

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000055866.12

Allele description [Variation Report for NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)]

NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)

Gene:
CPT1A:carnitine palmitoyltransferase 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)
HGVS:
  • NC_000011.10:g.68807553G>A
  • NG_011801.1:g.39379C>T
  • NM_001031847.3:c.367C>T
  • NM_001876.4:c.367C>TMANE SELECT
  • NP_001027017.1:p.Arg123Cys
  • NP_001867.2:p.Arg123Cys
  • NC_000011.9:g.68575021G>A
  • NM_001876.3:c.367C>T
  • P50416:p.Arg123Cys
Protein change:
R123C
Links:
UniProtKB: P50416#VAR_020546; dbSNP: rs80356775
NCBI 1000 Genomes Browser:
rs80356775
Molecular consequence:
  • NM_001031847.3:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001876.4:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Carnitine palmitoyl transferase 1A deficiency
Synonyms:
Carnitine palmitoyl transferase 1 deficiency; Carnitine palmitoyltransferase 1A deficiency; CPT1A deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009705; MedGen: C1829703; Orphanet: 156; OMIM: 255120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000086869GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000086869.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024