NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp)

NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp)

Variant type:
single nucleotide variant
Cytogenetic location:
17q21.3
Genomic location:
  • Chr17:48275538 (on Assembly GRCh37)
  • Chr17:50198177 (on Assembly GRCh38)
Protein change:
G13D, G191D
HGVS:
  • NG_007400.1:g.8463G>A
  • NM_000088.3:c.572G>A
  • NC_000017.11:g.50198177C>T (GRCh38)
  • NC_000017.10:g.48275538C>T (GRCh37)
  • NP_000079.2:p.Gly191Asp
  • LRG_1p1:p.Gly191Asp
  • LRG_1t1:c.572G>A
  • LRG_1:g.8463G>A
Links:
NCBI 1000 Genomes Browser:
rs67828806
Molecular consequence:
NM_000088.3:c.572G>A: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • Oi/eds combined syndrome[MedGen]
See supporting ClinVar records

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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
(Sep 27, 2013)
classified by single submitter
(literature only)
literature only
  • Oi/eds combined syndrome[MedGen]
germlinePubMed (2)
OMIM
(Dec 30, 2010)
SCV000039175

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Cabral et al. (2005) described a group of patients combining features of osteogenesis imperfecta (166200) and Ehlers-Danlos syndrome of a clinical type resembling EDS VII (130060). They showed that the disorder was due to glycine substitutions or an amino acid deletion within the N-anchor domain. Mutations within this stabilizing domain induced its reversible unfolding above 34 degrees centigrade (Makareeva et al., 2006). One of the substitutions found by Cabral et al. (2005) was gly13 to asp (G13D).

Last Updated: Oct 30, 2014

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