RGD:8599451 Rat Genome Database

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Variant: RGD:8599451 -  Homo sapiens

RGD ID: 8599451
RS ID: rs79775494
ClinVar ID: CV28607
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB3  LOC130061045  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 45,364,494
GRCh38 17 47,287,128
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008332.2:g.38287A>T
NC_000017.11:g.47287128A>T
NC_000017.10:g.45364494A>T
NP_000203.2:p.Lys279Met
More...
08/17/2021 missense|missense variant pathogenic|uncertain significance neonatal/infancy BLEEDING DISORDER, PLATELET-TYPE, 2; BLEEDING DISORDER, PLATELET-TYPE, 23; Diacyclothrombopathia 2B 3A; Glanzmann thrombasthenia type A; Glanzmann's thrombasthenia; 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: K to M (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRARPRPRPLWATVLALGALAGVGVGGPNICTTRGVSSCQQCLAVSPMCAWCSDEALPLGSPRCDLKENLLKDNCAPESI
EFPVSEARVLEDRPLSDKGSGDSSQVTQVSPQRIALRLRPDDSKNFSIQVRQVEDYPVDIYYLMDLSYSMKDDLWSIQNL
GTKLATQMRKLTSNLRIGFGAFVDKPVSPYMYISPPEALENPCYDMKTTCLPMFGYKHVLTLTDQVTRFNEEVKKQSVSR
NRDAPEGGFDAIMQATVCDEKIGWRNDASHLLVFTTDAMTHIALDGRLAGIVQPNDGQCHVGSDNHYSASTTMDYPSLGL
MTEKLSQKNINLIFAVTENVVNLYQNYSELIPGTTVGVLSMDSSNVLQLIVDAYGKIRSKVELEVRDLPEELSLSFNATC
LNNEVIPGLKSCMGLKIGDTVSFSIEAKVRGCPQEKEKSFTIKPVGFKDSLIVQVTFDCDCACQAQAEPNSHRCNNGNGT
FECGVCRCGPGWLGSQCECSEEDYRPSQQDECSPREGQPVCSQRGECLCGQCVCHSSDFGKITGKYCECDDFSCVRYKGE
MCSGHGQCSCGDCLCDSDWTGYYCNCTTRTDTCMSSNGLLCSGRGKCECGSCVCIQPGSYGDTCEKCPTCPDACTFKKEC
VECKKFDRGALHDENTCNRYCRDEIESVKELKDTGKDAVNCTYKNEDDCVVRFQYYEDSSGKSILYVVEEPECPKGPDIL
VVLLSVMGAILLIGLAALLIWKLLITIHDRKEFAKFEEERARAKWDTANNPLYKEATSTFTNITYRGT*

Variant Samples
Additional References at PubMed
PMID:20020534  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014536 CLINVAR
  RCV001580229 CLINVAR
dbSNP (RS) rs79775494 CLINVAR
MedGen C0040015 CLINVAR
  C5543273 CLINVAR
NCBI Gene ITGB3 CLINVAR
  LOC130061045 CLINVAR
OMIM 173470 CLINVAR
  273800 CLINVAR
  619267 CLINVAR
OMIM Allele 173470.0016 CLINVAR
SNOMED CT 32942005 CLINVAR