RGD:11590158 Rat Genome Database

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Variant: RGD:11590158 -  Homo sapiens

RGD ID: 11590158
RS ID: rs112424495
ClinVar ID: CV301041
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OSTM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 108,362,660
GRCh38 6 108,041,456
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007262.1:g.38282A>G
NC_000006.12:g.108041456T>C
NC_000006.11:g.108362660T>C
NM_014028.3:c.*3329A>G
More... 		01/13/2018 3 prime utr variant benign|likely benign Osteopetrosis infantile malignant 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OSTM1
Accession:NM_014028
Location:3UTRS;EXON

Gene Symbol:OSTM1
Accession:XM_047418680
Location:INTRON

Gene Symbol:OSTM1
Accession:XM_047418679
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316391 CLINVAR
dbSNP (RS) rs112424495 CLINVAR
MedGen C1968603 CLINVAR
NCBI Gene OSTM1 CLINVAR
OMIM 259720 CLINVAR
  607649 CLINVAR