RGD:11607812 Rat Genome Database

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Variant: RGD:11607812 -  Homo sapiens

RGD ID: 11607812
RS ID: rs548119179
ClinVar ID: CV305489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OSTM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 108,363,954
GRCh38 6 108,042,750
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.36988A>G
NC_000006.12:g.108042750T>C
NC_000006.11:g.108363954T>C
NM_014028.4:c.*2035A>G
More... 		06/14/2016 3 prime utr variant uncertain significance Osteopetrosis infantile malignant 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OSTM1
Accession:XM_047418679
Location:3UTRS;EXON

Gene Symbol:OSTM1
Accession:NM_014028
Location:3UTRS;EXON

Gene Symbol:OSTM1
Accession:XM_047418680
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000347673 CLINVAR
dbSNP (RS) rs548119179 CLINVAR
MedGen C1968603 CLINVAR
NCBI Gene OSTM1 CLINVAR
OMIM 259720 CLINVAR
  607649 CLINVAR