NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 26, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000255983.1

Allele description

NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg)

Gene:
L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg)
Other names:
L1CAM, GLY370ARG
HGVS:
  • NC_000023.11:g.153869818C>T
  • NG_009645.3:g.44406G>A
  • NM_000425.4:c.1108G>A
  • NP_000416.1:p.Gly370Arg
  • NC_000023.10:g.153135273C>T
  • NG_009645.2:g.44405G>A
  • NM_000425.3:c.1108G>A
  • P32004:p.Gly370Arg
Protein change:
G370R; GLY370ARG
Links:
UniProtKB: P32004#VAR_003932; OMIM: 308840.0011; dbSNP: rs137852524
NCBI 1000 Genomes Browser:
rs137852524
Molecular consequence:
  • NM_000425.4:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000321853GeneDxcriteria provided, single submitter
Pathogenic
(Jul 26, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000321853.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 11, 2018

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