RGD:156273392 Rat Genome Database

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Variant: RGD:156273392 -  Homo sapiens

RGD ID: 156273392
ClinVar ID: CV2202493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP8B  PPIE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 40,226,206
GRCh38 1 39,760,534
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1053t1:c.838-1983G>A
NM_001720.5:c.1094C>T
NM_001319293.2:c.799-3155G>A
NM_001195007.2:c.838-1983G>A
More... 		07/13/2021 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:BMP8B
Accession:NM_001720
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALPGPLWLLGLALCALGGGGPGLRPPPGCPQRRLGARERRDVQREILAVLGLPGRPRPRAPPAASRLPASAPLFMLDL
YHAMAGDDDEDGAPAERRLGRADLVMSFVNMVERDRALGHQEPHWKEFRFDLTQIPAGEAVTAAEFRIYKVPSIHLLNRT
LHVSMFQVVQEQSNRESDLFFLDLQTLRAGDEGWLVLDVTAASDCWLLKRHKDLGLRLYVETEDGHSVDPGLAGLLGQRA
PRSQQPFVVTFFRASPSPIRTPRAVRPLRRRQPKKSNELPQANRLPGIFDDVHGSHGRQVCRRHELYVSFQDLGWLDWVI
APQGYSAYYCEGECSFPLDSCMNATNHAILQSLVHLMMPDAVPKECCAPTKLSATSVLYYDSSNNVILRKHRNMVVKACG
CH*

Gene Symbol:BMP8B
Accession:XM_011542024
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALPGPLWLLGLALCALGGGGPGLRPPPGCPQRRLGARERRDVQREILAVLGLPGRPRPRAPPAASRLPASAPLFMLDL
YHAMAGDDDEDGAPAERRLGRADLVMSFVNMVERDRALGHQEPHWKEFRFDLTQIPAGEAVTAAEFRIYKVPSIHLLNRT
LHVSMFQVVQEQSNRESDLFFLDLQTLRAGDEGWLVLDVTAASDCWLLKRHKDLGLRLYVETEDGETWTGWGWTKDSRLQ
MWKLRLSRTPWVLSLHAPGPAQAPAERPLLCLLQGHCPASPSPIRTPRAVRPLRRRQPKKSNELPQANRLPGIFDDVHGS
HGRQVCRRHELYVSFQDLGWLDWVIAPQGYSAYYCEGECSFPLDSCMNATNHAILQSLVHLMMPDAVPKECCAPTKLSAT
SVLYYDSSNNVILRKHRNMVVKACGCH*

Gene Symbol:BMP8B
Accession:XM_011542025
Location:INTRON

Gene Symbol:PPIE
Accession:XM_047430138
Location:INTRON

Gene Symbol:BMP8B
Accession:XM_011542022
Location:INTRON

Gene Symbol:BMP8B
Accession:XM_024449299
Location:INTRON

Gene Symbol:PPIE
Accession:NM_203456
Location:INTRON

Gene Symbol:PPIE
Accession:XM_047430203
Location:INTRON

Gene Symbol:BMP8B
Accession:XM_005271149
Location:INTRON

Gene Symbol:PPIE
Accession:XM_047430164
Location:INTRON

Gene Symbol:BMP8B
Accession:XM_017002156
Location:INTRON

Gene Symbol:PPIE
Accession:XM_006710290
Location:INTRON

Gene Symbol:PPIE
Accession:NM_001319293
Location:INTRON

Gene Symbol:BMP8B
Accession:XM_017002155
Location:INTRON

Gene Symbol:PPIE
Accession:XM_017000051
Location:INTRON

Gene Symbol:PPIE
Accession:XM_047430061
Location:INTRON

Gene Symbol:PPIE
Accession:XM_047430098
Location:INTRON

Gene Symbol:PPIE
Accession:NM_001195007
Location:INTRON

Gene Symbol:PPIE
Accession:NM_006112
Location:INTRON

Gene Symbol:BMP8B
Accession:XR_946748
Location:INTRON;NON-CODING

Gene Symbol:BMP8B
Accession:XR_946749
Location:INTRON;NON-CODING

Gene Symbol:PPIE
Accession:NR_036543
Location:INTRON;NON-CODING

Gene Symbol:PPIE
Accession:NR_036544
Location:INTRON;NON-CODING

Gene Symbol:BMP8B
Accession:XR_946750
Location:INTRON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV004080793 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BMP8B CLINVAR
  PPIE CLINVAR
OMIM 602284 CLINVAR
  602435 CLINVAR