NM_001524.1(HCRT):c.47T>G (p.Leu16Arg)

Variation ID: Help
7303
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 2000
Number of submission(s):
1
Condition(s):
Narcolepsy[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001524.1(HCRT):c.47T>G (p.Leu16Arg)

Allele ID:
22342
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
  • Chr17: 42184503 (on Assembly GRCh38)
  • Chr17: 40336521 (on Assembly GRCh37)
Protein change:
L16R
HGVS:
  • NG_011448.1:g.5950T>G
  • NM_001524.1:c.47T>G
  • NC_000017.11:g.42184503A>C (GRCh38)
  • NP_001515.1:p.Leu16Arg
  • NC_000017.10:g.40336521A>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs104894574
Molecular consequence:
NM_001524.1:c.47T>G: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

NM_001524.1(HCRT):c.47T>G (p.Leu16Arg)

GRCh37 Chr17:40336521
Called variantsPotential variants
Sample countno data1 of 16545

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Sep 1, 2000)
no assertion criteria providedliterature onlygermlineOMIM

(Dec 30, 2010)

SCV000027927.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedNarcolepsy (not provided)not providednot providedIn a patient with early-onset narcolepsy (161400), Peyron et al. (2000) found a G-to-T transversion changing leucine-16 to a highly charged arginine i…Full description

Last Updated: Dec 5, 2015