NM_001844.4(COL2A1):c.2905G>A (p.Gly969Ser)

Variation ID: Help
17371
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 27, 1995
Number of submission(s):
1
Condition(s):
Achondrogenesis, type II[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001844.4(COL2A1):c.2905G>A (p.Gly969Ser)

Allele ID:
32410
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.1
Genomic location:
  • Chr12: 47978389 (on Assembly GRCh38)
  • Chr12: 48372172 (on Assembly GRCh37)
Protein change:
G769S, G900S, G969S
HGVS:
  • NG_008072.1:g.31114G>A
  • NM_001844.4:c.2905G>A
  • NM_033150.2:c.2698G>A
  • NP_001835.3:p.Gly969Ser
  • NP_149162.2:p.Gly900Ser
  • NC_000012.12:g.47978389C>T (GRCh38)
  • NC_000012.11:g.48372172C>T (GRCh37)
  • P02458:p.Gly969Ser
Links:
NCBI 1000 Genomes Browser:
rs121912878
Molecular consequence:
NM_001844.4:c.2905G>A: missense variant [Sequence Ontology SO:0001583]

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
Pathogenic
(Jan 27, 1995)
no assertion criteria providedliterature onlygermlineOMIMSCV000039199.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017