NM_001040167.1(LFNG):c.564C>A (p.Phe188Leu)

Variation ID: Help
6999
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 25, 2009
Number of submission(s):
2
Condition(s):
Spondylocostal dysostosis 3[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001040167.1(LFNG):c.564C>A (p.Phe188Leu)

Allele ID:
22038
Variant type:
single nucleotide variant
Cytogenetic location:
7p22
Genomic location:
  • Chr7: 2525301 (on Assembly GRCh38)
  • Chr7: 2564935 (on Assembly GRCh37)
Protein change:
F188L
HGVS:
  • NG_008109.2:g.17773C>A
  • NM_001040167.1:c.564C>A
  • NM_001040168.1:c.564C>A
  • NP_001035257.1:p.Phe188Leu
  • NP_001035258.1:p.Phe188Leu
  • NC_000007.14:g.2525301C>A (GRCh38)
  • NC_000007.13:g.2564935C>A (GRCh37)
  • Q8NES3:p.Phe188Leu
Links:
NCBI 1000 Genomes Browser:
rs104894024
Molecular consequence:
NM_001040168.1:c.564C>A: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

NM_001040167.1(LFNG):c.564C>A (p.Phe188Leu)

GRCh37 Chr7:2564935
Called variantsPotential variants
Sample countno data0 of 39967

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 nameSubmission accession
Pathogenic
(Aug 25, 2009)
no assertion criteria providedliterature onlynot providedGeneReviewsSCV000055738.1
Pathogenic
(Jan 1, 2006)
no assertion criteria providedliterature onlygermlineOMIMSCV000115330.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 10, 2017