RGD:11545349 Rat Genome Database

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Variant: RGD:11545349 -  Homo sapiens

RGD ID: 11545349
RS ID: rs15908
ClinVar ID: CV256226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 45,368,337
GRCh38 17 47,290,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_481t1:c.1143A>C
LRG_481:g.42130A>C
NG_008332.2:g.42130A>C
NC_000017.11:g.47290971A>C
More... 		09/04/2020 synonymous variant benign infancy AllHighlyPenetrant; BLEEDING DISORDER, PLATELET-TYPE, 2; Diacyclothrombopathia 2B 3A; Glanzmann thrombasthenia type A; Glanzmann's thrombasthenia; none provided; PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY; Thrombasthenia of Glanzmann and Naegeli
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ITGB3
Accession:NM_000212
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRARPRPRPLWATVLALGALAGVGVGGPNICTTRGVSSCQQCLAVSPMCAWCSDEALPLGSPRCDLKENLLKDNCAPESI
EFPVSEARVLEDRPLSDKGSGDSSQVTQVSPQRIALRLRPDDSKNFSIQVRQVEDYPVDIYYLMDLSYSMKDDLWSIQNL
GTKLATQMRKLTSNLRIGFGAFVDKPVSPYMYISPPEALENPCYDMKTTCLPMFGYKHVLTLTDQVTRFNEEVKKQSVSR
NRDAPEGGFDAIMQATVCDEKIGWRNDASHLLVFTTDAKTHIALDGRLAGIVQPNDGQCHVGSDNHYSASTTMDYPSLGL
MTEKLSQKNINLIFAVTENVVNLYQNYSELIPGTTVGVLSMDSSNVLQLIVDAYGKIRSKVELEVRDLPEELSLSFNATC
LNNEVIPGLKSCMGLKIGDTVSFSIEAKVRGCPQEKEKSFTIKPVGFKDSLIVQVTFDCDCACQAQAEPNSHRCNNGNGT
FECGVCRCGPGWLGSQCECSEEDYRPSQQDECSPREGQPVCSQRGECLCGQCVCHSSDFGKITGKYCECDDFSCVRYKGE
MCSGHGQCSCGDCLCDSDWTGYYCNCTTRTDTCMSSNGLLCSGRGKCECGSCVCIQPGSYGDTCEKCPTCPDACTFKKEC
VECKKFDRGALHDENTCNRYCRDEIESVKELKDTGKDAVNCTYKNEDDCVVRFQYYEDSSGKSILYVVEEPECPKGPDIL
VVLLSVMGAILLIGLAALLIWKLLITIHDRKEFAKFEEERARAKWDTANNPLYKEATSTFTNITYRGT*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245014 CLINVAR
  RCV000336334 CLINVAR
  RCV000826426 CLINVAR
dbSNP (RS) rs15908 CLINVAR
MedGen C0040015 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ITGB3 CLINVAR
OMIM 173470 CLINVAR
  273800 CLINVAR
SNOMED CT 32942005 CLINVAR