RGD:42723914 Rat Genome Database

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Variant: RGD:42723914 -  Homo sapiens

RGD ID: 42723914
RS ID: rs75427428
ClinVar ID: CV983903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 45,351,805
GRCh38 17 47,274,439
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.47274439C>T
NC_000017.10:g.45351805C>T
NP_000203.2:p.Arg34Ter
NM_000212.3:c.100C>T
More... 		11/24/2023 nonsense pathogenic 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: R to * (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRARPRPRPLWATVLALGALAGVGVGGPNICTT*GVSSCQQCLAVSPMCAWCSDEALPLGSPRCDLKENLLKDNCAPESI
EFPVSEARVLEDRPLSDKGSGDSSQVTQVSPQRIALRLRPDDSKNFSIQVRQVEDYPVDIYYLMDLSYSMKDDLWSIQNL
GTKLATQMRKLTSNLRIGFGAFVDKPVSPYMYISPPEALENPCYDMKTTCLPMFGYKHVLTLTDQVTRFNEEVKKQSVSR
NRDAPEGGFDAIMQATVCDEKIGWRNDASHLLVFTTDAKTHIALDGRLAGIVQPNDGQCHVGSDNHYSASTTMDYPSLGL
MTEKLSQKNINLIFAVTENVVNLYQNYSELIPGTTVGVLSMDSSNVLQLIVDAYGKIRSKVELEVRDLPEELSLSFNATC
LNNEVIPGLKSCMGLKIGDTVSFSIEAKVRGCPQEKEKSFTIKPVGFKDSLIVQVTFDCDCACQAQAEPNSHRCNNGNGT
FECGVCRCGPGWLGSQCECSEEDYRPSQQDECSPREGQPVCSQRGECLCGQCVCHSSDFGKITGKYCECDDFSCVRYKGE
MCSGHGQCSCGDCLCDSDWTGYYCNCTTRTDTCMSSNGLLCSGRGKCECGSCVCIQPGSYGDTCEKCPTCPDACTFKKEC
VECKKFDRGALHDENTCNRYCRDEIESVKELKDTGKDAVNCTYKNEDDCVVRFQYYEDSSGKSILYVVEEPECPKGPDIL
VVLLSVMGAILLIGLAALLIWKLLITIHDRKEFAKFEEERARAKWDTANNPLYKEATSTFTNITYRGT*
Variant Samples
Additional References at PubMed
PMID:9450787   PMID:21917754   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001290487 CLINVAR
  RCV003558799 CLINVAR
dbSNP (RS) rs75427428 CLINVAR
MedGen C0040015 CLINVAR
  C3661900 CLINVAR
NCBI Gene ITGB3 CLINVAR
OMIM 173470 CLINVAR
  273800 CLINVAR
SNOMED CT 32942005 CLINVAR