RGD:11602173 Rat Genome Database

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Variant: RGD:11602173 -  Homo sapiens

RGD ID: 11602173
RS ID: rs552422428
ClinVar ID: CV314345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HABP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 115,348,386
GRCh38 10 113,588,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008956.1:g.40609C>T
NC_000010.11:g.113588627C>T
NC_000010.10:g.115348386C>T
NM_004132.3:c.*258C>T
More... 		06/14/2016 3 prime utr variant uncertain significance Factor vii-activating protease marburg i
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HABP2
Accession:NM_004132
Location:3UTRS;EXON

Gene Symbol:HABP2
Accession:NM_001177660
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000288482 CLINVAR
dbSNP (RS) rs552422428 CLINVAR
MedGen CN068943 CLINVAR
NCBI Gene HABP2 CLINVAR
OMIM 603924 CLINVAR