RGD:402511192 Rat Genome Database

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Variant: RGD:402511192 -  Homo sapiens

RGD ID: 402511192
ClinVar ID: CV3089174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR1B  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 96,051,222
GRCh38 4 95,130,071
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001203.3:c.778+17A>C
NM_001256792.2:c.778+17A>C
NM_001256794.1:c.778+17A>C
NM_001256793.2:c.868+17A>C
More... 		01/01/2023 intron variant likely benign Acromesomelic dysplasia 3; Acromesomelic dysplasia, Demirhan type; Brachydactyly, type 2a; BRACHYMESOPHALANGY II; Brachymesophalangy type 2; Chondrodysplasia acromesomelic with genital anomalies; CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES; Mohr-Wriedt type brachydactyly
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:BMPR1B
Accession:XM_047416095
Location:INTRON

Gene Symbol:BMPR1B
Accession:XM_017008558
Location:INTRON

Gene Symbol:BMPR1B
Accession:NM_001256793
Location:INTRON

Gene Symbol:BMPR1B
Accession:NM_001256794
Location:INTRON

Gene Symbol:BMPR1B
Accession:XM_047416091
Location:INTRON

Gene Symbol:BMPR1B
Accession:XM_047416094
Location:INTRON

Gene Symbol:BMPR1B
Accession:XM_017008559
Location:INTRON

Gene Symbol:BMPR1B
Accession:XM_011532201
Location:INTRON

Gene Symbol:BMPR1B
Accession:NM_001203
Location:INTRON

Gene Symbol:BMPR1B
Accession:XM_047416093
Location:INTRON

Gene Symbol:BMPR1B
Accession:XM_017008560
Location:INTRON

Gene Symbol:BMPR1B
Accession:NM_001256792
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003780206 CLINVAR
MedGen C1832702 CLINVAR
NCBI Gene BMPR1B CLINVAR
OMIM 112600 CLINVAR
  603248 CLINVAR
  609441 CLINVAR