U.S. flag

An official website of the United States government

NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter) 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:
RCV000055856.4

Allele description [Variation Report for NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter)]

NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter)

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.1425G>A (p.Trp475Ter)
HGVS:
  • NC_000011.10:g.68780673C>T
  • NG_011801.1:g.66259G>A
  • NM_001031847.3:c.1425G>A
  • NM_001876.4:c.1425G>AMANE SELECT
  • NP_001027017.1:p.Trp475Ter
  • NP_001867.2:p.Trp475Ter
  • NC_000011.9:g.68548141C>T
  • NM_001876.3:c.1425G>A
Protein change:
W475*
Links:
dbSNP: rs80356794
NCBI 1000 Genomes Browser:
rs80356794
Molecular consequence:
  • NM_001031847.3:c.1425G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001876.4:c.1425G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000086855GeneReviews
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, SCV000086855.3

#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: Sep 8, 2024