RGD:11593242 Rat Genome Database

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Variant: RGD:11593242 -  Homo sapiens

RGD ID: 11593242
RS ID: rs1863654
ClinVar ID: CV300040
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 96,078,174
GRCh38 4 95,157,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009245.1:g.404047C>T
NC_000004.12:g.95157023C>T
NC_000004.11:g.96078174C>T
NM_001203.3:c.*2350C>T
More... 		06/14/2016 3 prime utr variant benign Brachydactyly (disease); Brachydactyly syndrome
Disease Annotations     Click to see Annotation Detail View
brachydactyly  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Brachydactyly  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:BMPR1B
Accession:XM_017008560
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:XM_047416095
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:XM_011532201
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:XM_017008558
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:NM_001203
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:NM_001256794
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:XM_017008559
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:XM_047416091
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:NM_001256792
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:NM_001256793
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:XM_047416093
Location:3UTRS;EXON

Gene Symbol:BMPR1B
Accession:XM_047416094
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000346765 CLINVAR
dbSNP (RS) rs1863654 CLINVAR
MedGen C0221357 CLINVAR
NCBI Gene BMPR1B CLINVAR
OMIM 603248 CLINVAR
SNOMED CT 43476002 CLINVAR