RGD:10042038 Rat Genome Database

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Variant: RGD:10042038 -  Homo sapiens

RGD ID: 10042038
RS ID: rs786204152
ClinVar ID: CV186120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR1A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 88,635,841
GRCh38 10 86,876,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_298t1:c.66A>C
LRG_298:g.124446A>C
NG_009362.1:g.124446A>C
NC_000010.11:g.86876084A>C
More... 		11/13/2023 missense variant uncertain significance variable 1-9 / 100 000 Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPR1A
Accession:NM_001406588
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406585
Location:5UTRS;INTRON

Gene Symbol:BMPR1A
Accession:NM_001406587
Location:5UTRS;INTRON

Gene Symbol:BMPR1A
Accession:NM_001406586
Location:5UTRS;INTRON

Gene Symbol:BMPR1A
Accession:NM_001406584
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:BMPR1A
Accession:XM_047425680
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406572
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406574
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406581
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406564
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406573
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406583
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406578
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406560
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_004329
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406562
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406567
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406580
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406563
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406568
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406570
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406565
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406576
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406561
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406559
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406566
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406577
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406579
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406589
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406571
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406582
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406569
Location:EXON

Gene Symbol:BMPR1A
Accession:NM_001406575
Location:EXON

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000168143 CLINVAR
  RCV000758776 CLINVAR
  RCV002362860 CLINVAR
dbSNP (RS) rs786204152 CLINVAR
MedGen C0027672 CLINVAR
  C0345893 CLINVAR
  C3661900 CLINVAR
NCBI Gene BMPR1A CLINVAR
OMIM 174900 CLINVAR
  601299 CLINVAR
SNOMED CT 699346009 CLINVAR
  9273005 CLINVAR