RGD:151850628 Rat Genome Database

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Variant: RGD:151850628 -  Homo sapiens

RGD ID: 151850628
RS ID: rs367849370
ClinVar ID: CV1448491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 22,064,367
GRCh38 8 22,206,854
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029659.1:g.46715C>T
NC_000008.11:g.22206854C>T
NC_000008.10:g.22064367C>T
NR_033403.2:n.2305C>T
More... 		09/01/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:BMP1
Accession:NM_006129
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 745
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYKDPCKAAAFLGDIALDEEDLRAFQVQQAVDLRRHTAR
KSSIKAAVPGNTSTPSCQSTNGQPQRGACGRWRGRSRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEK
HTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVVGFWHEHTRPDRDRHVSIVREN
IQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIGQRTRLSKGDIAQARKLYKCP
ACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKIILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGSK
LPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDYGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSF
EIERHDSCAYDYLEVRDGHSESSTLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCE
QRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEG
NDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVN
TFGSYECQCRSGFVLHDNKHDCKEVGCDHKVTSTSGTITSPNWPDKYPSKKECTWAISSTPGHRVKLTFMEMDIESQPEC
AYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGSRMFLRFYSDNSVQRKGFQASHATECGGQVRADVKTKDLYSHAQFG
DNNYPGGVDCEWVIVAEEGYGVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHS
DDTITKKGFHLRYTSTKFQDTLHSRK*

Gene Symbol:BMP1
Accession:NR_033403
Location:EXON;NON-CODING

Gene Symbol:BMP1
Accession:NM_001199
Location:INTRON

Gene Symbol:BMP1
Accession:NR_033404
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001957937 CLINVAR
dbSNP (RS) rs367849370 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BMP1 CLINVAR
OMIM 112264 CLINVAR