NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs)

NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs)

Variant type:
Duplication
Cytogenetic location:
17p13
Genomic location:
  • Chr17:8016451 - 8016454 (on Assembly GRCh38)
  • Chr17:7919769 - 7919772 (on Assembly GRCh37)
HGVS:
  • NG_009092.1:g.18782_18785dupACCA
  • NM_000180.3:c.3233_3236dupACCA
  • NC_000017.11:g.8016451_8016454dupACCA
  • NC_000017.10:g.7919769_7919772dupACCA
  • NP_000171.1:p.His1079Glnfs
Links:
dbSNP: 386834239
NCBI 1000 Genomes Browser:
rs386834239
Molecular consequence:
NM_000180.3:c.3236_3237insACCA: frameshift variant [Sequence Ontology SO:0001589]

Clinical significance

NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs)

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

1 Affected Gene

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(May 2, 2013)
classified by single submitter
(literature only)
literature onlynot providedPubMed (1)
GeneReviews
(Apr 30, 2013)
SCV000086737

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providednot providednot providednot provided

GeneReviews

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providednot provided

Description

not provided

Last Updated: Aug 5, 2014

Write to the Help Desk