RGD:11579320 Rat Genome Database

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Variant: RGD:11579320 -  Homo sapiens

RGD ID: 11579320
RS ID: rs112333283
ClinVar ID: CV272112
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR1B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 96,075,833
GRCh38 4 95,154,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256793.2:c.*9G>C
NM_001256794.1:c.*9G>C
NM_001203.2:c.*9G>C
NG_009245.1:g.401706G>C
More... 		06/14/2016 3 prime utr variant likely benign AllHighlyPenetrant; Brachydactyly (disease); Brachydactyly syndrome; none provided
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:NM_001256794
Location:3UTRS;EXON

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

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

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

Gene Symbol:BMPR1B
Accession:XM_017008560
Location:3UTRS;EXON

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300815 CLINVAR
  RCV000402512 CLINVAR
  RCV001551563 CLINVAR
dbSNP (RS) rs112333283 CLINVAR
MedGen C0221357 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene BMPR1B CLINVAR
OMIM 603248 CLINVAR
SNOMED CT 43476002 CLINVAR