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NM_018714.3(COG1):c.1117G>A (p.Val373Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 17, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000202771.1

Allele description [Variation Report for NM_018714.3(COG1):c.1117G>A (p.Val373Met)]

NM_018714.3(COG1):c.1117G>A (p.Val373Met)

Gene:
COG1:component of oligomeric golgi complex 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_018714.3(COG1):c.1117G>A (p.Val373Met)
HGVS:
  • NC_000017.11:g.73200612G>A
  • NG_008971.1:g.12579G>A
  • NM_018714.3:c.1117G>AMANE SELECT
  • NP_061184.1:p.Val373Met
  • NC_000017.10:g.71196751G>A
  • NM_018714.2:c.1117G>A
Protein change:
V373M
Links:
dbSNP: rs201886877
NCBI 1000 Genomes Browser:
rs201886877
Molecular consequence:
  • NM_018714.3:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258138Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Uncertain significance
(Jun 17, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000258138.2

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

Last Updated: May 24, 2022

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