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NM_015238.2(WWC1):c.1185-3222C>T

Variation ID: Help
1213
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
association
Last evaluated:
Aug 7, 2013
Number of submission(s):
1
Condition(s):
Memory quantitative trait locus[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_015238.2(WWC1):c.1185-3222C>T

Allele ID:
16252
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
  • Chr5: 168418786 (on Assembly GRCh38)
  • Chr5: 167845791 (on Assembly GRCh37)
Other names:
  • WWC1, IVS9, C-T (rs17070145), MET734ILE (rs3822660), SER735ALA (rs3822659)
HGVS:
  • NG_016712.1:g.131727C>T
  • NM_015238.2:c.1185-3222C>T
  • NC_000005.10:g.168418786C>T (GRCh38)
  • NC_000005.9:g.167845791C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs17070145
Molecular consequence:
NM_015238.2:c.1185-3222C>T: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.47943 (C)
  • 1000 Genomes Project 0.52057
  • The Genome Aggregation Database (gnomAD) 0.44106
  • Trans-Omics for Precision Medicine (TOPMed) 0.45508

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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
association
(Aug 7, 2013)
no assertion criteria providedliterature onlygermlineOMIMSCV000121608.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 24, 2018

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