NM_015979.3(MED23):c.3330T>C (p.Ala1110=)

NM_015979.3(MED23):c.3330T>C (p.Ala1110=)

Variant type:
single nucleotide variant
Cytogenetic location:
6q23.2
Genomic location:
  • Chr6:131914232 (on Assembly GRCh37)
  • Chr6:131593092 (on Assembly GRCh38)
HGVS:
  • NG_031860.1:g.40132T>C
  • NM_015979.3:c.3330T>C
  • NC_000006.12:g.131593092A>G (GRCh38)
  • NC_000006.11:g.131914232A>G (GRCh37)
  • NP_057063.2:p.Ala1110=
  • NM_015979.2:c.3330T>C
Links:
dbSNP: 77187818
NCBI 1000 Genomes Browser:
rs77187818
Molecular consequence:
NM_015979.3:c.3330T>C: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • GO-ESP 0.02614 (G)
  • GMAF 0.01000 (G)

Clinical significance

NM_015979.3(MED23):c.3330T>C (p.Ala1110=)

Clinical significance:
Benign/Likely benign
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Likely benignclassified by single submitter
(clinical testing)
clinical testing
  • not specified (Autosomal recessive inheritance)[MedGen]
germlineGenetic Services Laboratory, University of Chicago
(Jun 27, 2014)
SCV000151845

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

Genetic Services Laboratory

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection methodDescription
not providednot providednot providedgermlinenot providednot providednot providedclinical testingSee description

Last Updated: Dec 20, 2014

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