RGD:28907210 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:28907210 -  Homo sapiens

RGD ID: 28907210
RS ID: rs908653050
ClinVar ID: CV898522
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 94,024,140
GRCh38 7 94,394,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
LRG_2t1:c.-204T>G
LRG_2:g.5268T>G
NG_007405.1:g.5268T>G
NC_000007.14:g.94394828T>G
More...
01/12/2018 uncertain significance EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001159389 CLINVAR
  RCV001159390 CLINVAR
dbSNP (RS) rs908653050 CLINVAR
MedGen C0029434 CLINVAR
  CN293783 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  617821 CLINVAR
SNOMED CT 78314001 CLINVAR