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NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)

Variation ID: Help
619034
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 20, 2019
Number of submission(s):
1
Condition(s):
Congenital disorder of glycosylation with defective fucosylation 2[OMIM]
See supporting ClinVar records

Allele(s) Help

NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)

Allele ID:
610432
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
  • Chr16: 70474586 (on Assembly GRCh38)
  • Chr16: 70508489 (on Assembly GRCh37)
Protein change:
R683C
HGVS:
  • NC_000016.10:g.70474586C>T (GRCh38)
  • NC_000016.9:g.70508489C>T (GRCh37)
  • NM_145059.2:c.2047C>T
Links:
OMIM: 608675.0002

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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
(Feb 20, 2019)
no assertion criteria providedliterature only
  • Congenital disorder of glycosylation with defective fucosylation 2[OMIM]
germlineOMIMSCV000886470.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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