RGD:15144330 Rat Genome Database

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Variant: RGD:15144330 -  Homo sapiens

RGD ID: 15144330
RS ID: rs17565
ClinVar ID: CV742909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDGFB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 39,627,821
GRCh38 22 39,231,816
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.39231816T>C
NM_002608.3:c.262A>G
NP_148937.1:p.Ile73Val
NC_000022.10:g.39627821T>C
More... 		01/01/2023 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PDGFB
Accession:XM_047441394
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTVAEPAMIAECKTRTEVFEISRRLI
DRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTR
SPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDKTALKETLGA*

Gene Symbol:PDGFB
Accession:NM_002608
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRCWALFLSLCCYLRLVSAEGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGR
RSLGSLTVAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVR
KKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDKTALKETLG
A*

Gene Symbol:PDGFB
Accession:NM_033016
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFIMGLGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTVAEPAMIA
ECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDH
LACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDKTALKETLGA*

Gene Symbol:PDGFB
Accession:XM_047441393
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTVAEPAMIAECKTRTEVFEISRRLI
DRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTR
SPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDKTALKETLGA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000899986 CLINVAR
dbSNP (RS) rs17565 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PDGFB CLINVAR
OMIM 190040 CLINVAR