RGD:13539285 Rat Genome Database

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Variant: RGD:13539285 -  Homo sapiens

RGD ID: 13539285
RS ID: rs368380161
ClinVar ID: CV506210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 48,267,207
GRCh38 17 50,189,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000088.3:c.2613+13C>T
LRG_1t1:c.2613+13C>T
LRG_1:g.16794C>T
NG_007400.1:g.16794C>T
More... 		08/14/2018 intron variant benign|likely benign AllHighlyPenetrant; Arthrochalasis multiplex congenita; Caffey Disease; 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Gene Symbol:COL1A1
Accession:NM_000088
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000613072 CLINVAR
  RCV000710765 CLINVAR
  RCV001127596 CLINVAR
  RCV001127597 CLINVAR
  RCV001127598 CLINVAR
  RCV002063206 CLINVAR
dbSNP (RS) rs368380161 CLINVAR
MedGen 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
  78314001 CLINVAR