RGD:8566162 Rat Genome Database

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Variant: RGD:8566162 -  Homo sapiens

RGD ID: 8566162
RS ID: rs72656367
ClinVar ID: CV32312
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 94,035,043
GRCh38 7 94,405,731
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007405.1:g.16171G>A
NC_000007.14:g.94405731G>A
NC_000007.13:g.94035043G>A
NM_000089.3:c.540+5G>A
More... 		06/23/2011 intron variant pathogenic neonatal/infancy <1 / 1 000 000 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:9295084   PMID:15077201  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018814 CLINVAR
dbSNP (RS) rs72656367 CLINVAR
MedGen C4303789 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  225320 CLINVAR
OMIM Allele 120160.0045 CLINVAR
SNOMED CT 720858001 CLINVAR