RGD:13613883 Rat Genome Database

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Variant: RGD:13613883 -  Homo sapiens

RGD ID: 13613883
RS ID: rs1555574177
ClinVar ID: CV531523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 48,273,027
GRCh38 17 50,195,666
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.48273027C>T
NC_000017.11:g.50195666C>T
NM_000088.3:c.1057-1G>A
NG_007400.1:g.10974G>A
More... 		05/06/2019 splice acceptor variant pathogenic 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:NM_000088
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7942841   PMID:9295084   PMID:9443882   PMID:16199547   PMID:25963598   PMID:27132807   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000631476 CLINVAR
dbSNP (RS) rs1555574177 CLINVAR
MedGen C0023931 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 120150 CLINVAR
  166200 CLINVAR
SNOMED CT 385482004 CLINVAR