RGD:11616088 Rat Genome Database

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Variant: RGD:11616088 -  Homo sapiens

RGD ID: 11616088
RS ID: rs201682029
ClinVar ID: CV329145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  LOC127887307  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 48,266,096
GRCh38 17 50,188,735
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_000088.4:c.3099+7T>C
LRG_1t1:c.3099+7T>C
LRG_1:g.17905T>C
NG_007400.1:g.17905T>C
More... 		12/31/2019 intron variant benign|likely benign|uncertain significance antenatal AllHighlyPenetrant; Arthrochalasis multiplex congenita; Caffey Disease; Connective tissue disease; ED syndrome; EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; EDS7A (formerly); EDS7B (formerly); Ehlers-Danlos syndrome arthrochalasia type; Ehlers-Danlos syndrome type 7A (formerly); Ehlers-Danlos syndrome type 7B (formerly); Ehlers-Danlos syndrome, arthrochalasia type, 1; Hyperostosis, Cortical, Congenital; Lobstein disease; Lobstein's Disease; none provided; OI type 1; OI type 1A; OI, TYPE I; Osteogenesis imperfecta tarda; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta with opalescent teeth; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE; PROALBUMIN CHRISTCHURCH

Variant Details
Variant Transcripts
Gene Symbol:COL1A1
Accession:XM_005257058
Location:INTRON

Gene Symbol:COL1A1
Accession:NM_000088
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000291739 CLINVAR
  RCV000346597 CLINVAR
  RCV000399463 CLINVAR
  RCV000444155 CLINVAR
  RCV000527323 CLINVAR
  RCV000659356 CLINVAR
  RCV001087478 CLINVAR
  RCV002278492 CLINVAR
dbSNP (RS) rs201682029 CLINVAR
MedGen C0009782 CLINVAR
  C0013720 CLINVAR
  C0020497 CLINVAR
  C0023931 CLINVAR
  C0029434 CLINVAR
  C3661900 CLINVAR
  C4551623 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 114000 CLINVAR
  120150 CLINVAR
  130060 CLINVAR
  166200 CLINVAR
SNOMED CT 24752008 CLINVAR
  385482004 CLINVAR
  398114001 CLINVAR
  78314001 CLINVAR