RGD:12846819 Rat Genome Database

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Variant: RGD:12846819 -  Homo sapiens

RGD ID: 12846819
RS ID: rs201530603
ClinVar ID: CV371528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 88,659,659
GRCh38 10 86,899,902
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_298t1:c.430+12G>A
LRG_298:g.148264G>A
NG_009362.1:g.148264G>A
NC_000010.11:g.86899902G>A
More...
04/11/2017 intron variant likely benign AllHighlyPenetrant; Cancer breast; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:BMPR1A
Accession:NM_004329
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BMPR1A
Accession:XM_047425680
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406562
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406568
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406567
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406564
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406566
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406577
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406572
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406582
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406570
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406565
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406574
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406573
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406576
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406575
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406571
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406563
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406581
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406561
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406584
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406579
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406569
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406578
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406580
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406560
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406559
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406583
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406589
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406588
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406587
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406585
Location:INTRON

Gene Symbol:BMPR1A
Accession:NM_001406586
Location:INTRON

Gene Symbol:BMPR1A
Accession:NR_176213
Location:INTRON;NON-CODING

Gene Symbol:BMPR1A
Accession:NR_176212
Location:INTRON;NON-CODING

Gene Symbol:BMPR1A
Accession:NR_176211
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000442378 CLINVAR
  RCV000580012 CLINVAR
  RCV001357573 CLINVAR
  RCV001865353 CLINVAR
dbSNP (RS) rs201530603 CLINVAR
MedGen C0006142 CLINVAR
  C0027672 CLINVAR
  C0345893 CLINVAR
  CN169374 CLINVAR
NCBI Gene BMPR1A CLINVAR
OMIM 174900 CLINVAR
  601299 CLINVAR
SNOMED CT 254837009 CLINVAR
  699346009 CLINVAR
  9273005 CLINVAR