RGD:11617248 Rat Genome Database

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Variant: RGD:11617248 -  Homo sapiens

RGD ID: 11617248
RS ID: rs200689194
ClinVar ID: CV339298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 48,278,897
GRCh38 17 50,201,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_1t1:c.-23G>A
LRG_1:g.5104G>A
NG_007400.1:g.5104G>A
NC_000017.11:g.50201536C>T
More... 		01/13/2018 5 prime utr variant benign|likely benign|uncertain significance antenatal 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; 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:5UTRS;EXON

Gene Symbol:COL1A1
Accession:NM_000088
Location:5UTRS;EXON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:5UTRS;EXON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000302289 CLINVAR
  RCV000365246 CLINVAR
  RCV000392860 CLINVAR
dbSNP (RS) rs200689194 CLINVAR
MedGen C0020497 CLINVAR
  C0029434 CLINVAR
  C4551623 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 114000 CLINVAR
  120150 CLINVAR
  130060 CLINVAR
SNOMED CT 24752008 CLINVAR
  78314001 CLINVAR