NM_000340.1(SLC2A2):c.1250C>T (p.Pro417Leu)

Variation ID: Help
16095
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, 1999
Number of submission(s):
1
Condition(s):
Fanconi-Bickel syndrome[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000340.1(SLC2A2):c.1250C>T (p.Pro417Leu)

Allele ID:
31134
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.2
Genomic location:
  • Chr3: 170998317 (on Assembly GRCh38)
  • Chr3: 170716106 (on Assembly GRCh37)
Protein change:
P417L
HGVS:
  • NG_008108.1:g.33663C>T
  • NM_000340.1:c.1250C>T
  • NC_000003.12:g.170998317G>A (GRCh38)
  • NP_000331.1:p.Pro417Leu
  • NC_000003.11:g.170716106G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121909744
Molecular consequence:
NM_000340.1:c.1250C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000340.1(SLC2A2):c.1250C>T (p.Pro417Leu)

GRCh37 Chr3:170716106
Called variantsPotential variants
Sample countno data1 of 40958

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.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 1, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000037747.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Feb 17, 2016