RGD:28909592 Rat Genome Database

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Variant: RGD:28909592 -  Homo sapiens

RGD ID: 28909592
RS ID: rs1027922647
ClinVar ID: CV866465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR1A  LOC130004245  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 88,516,444
GRCh38 10 86,756,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_298t1:c.-500A>C
NM_004329.3:c.-500A>C
LRG_298:g.5049A>C
NG_009362.1:g.5049A>C
More... 		01/13/2018 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPR1A
Accession:NM_001406574
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406573
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406581
Location:5UTRS;EXON

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

Gene Symbol:BMPR1A
Accession:NM_001406572
Location:5UTRS;EXON

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

Gene Symbol:BMPR1A
Accession:NM_001406569
Location:5UTRS;EXON

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

Gene Symbol:BMPR1A
Accession:NM_001406571
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406588
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406576
Location:5UTRS;EXON

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

Gene Symbol:BMPR1A
Accession:NM_004329
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406582
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406570
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406580
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406560
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406583
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406577
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406563
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406559
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406565
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406561
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406578
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406575
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406579
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406589
Location:5UTRS;EXON

Gene Symbol:BMPR1A
Accession:NM_001406566
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:BMPR1A
Accession:NM_001406568
Location:5UTRS;INTRON

Gene Symbol:BMPR1A
Accession:NM_001406567
Location:5UTRS;INTRON

Gene Symbol:BMPR1A
Accession:NM_001406564
Location:5UTRS;INTRON

Gene Symbol:BMPR1A
Accession:NM_001406562
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

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

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

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

Gene Symbol:BMPR1A
Accession:XM_047425680
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001108446 CLINVAR
dbSNP (RS) rs1027922647 CLINVAR
MedGen C1868081 CLINVAR
NCBI Gene BMPR1A CLINVAR
  LOC130004245 CLINVAR
OMIM 601299 CLINVAR