RGD:28868735 Rat Genome Database

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Variant: RGD:28868735 -  Homo sapiens

RGD ID: 28868735
RS ID: rs1792135004
ClinVar ID: CV900419
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 94,049,770
GRCh38 7 94,420,458
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000089.4:c.2187+14A>G
LRG_2:g.30898A>G
NG_007405.1:g.30898A>G
NC_000007.14:g.94420458A>G
More... 		02/02/2018 intron variant uncertain significance EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL1A2
Accession:NM_000089
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001162674 CLINVAR
  RCV001162675 CLINVAR
dbSNP (RS) rs1792135004 CLINVAR
MedGen C0029434 CLINVAR
  CN293783 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  617821 CLINVAR
SNOMED CT 78314001 CLINVAR