RGD:13477644 Rat Genome Database

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Variant: RGD:13477644 -  Homo sapiens

RGD ID: 13477644
RS ID: rs376244140
ClinVar ID: CV441978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 48,269,997
GRCh38 17 50,192,636
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1t1:c.1929+4A>C
LRG_1:g.14004A>C
NG_007400.1:g.14004A>C
NC_000017.11:g.50192636T>G
More... 		08/22/2018 intron variant uncertain significance AllHighlyPenetrant; Lobstein disease; Lobstein's Disease; 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
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:NM_000088
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000516424 CLINVAR
  RCV000817511 CLINVAR
dbSNP (RS) rs376244140 CLINVAR
MedGen C0023931 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR