RGD:8565115 Rat Genome Database

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Variant: RGD:8565115 -  Homo sapiens

RGD ID: 8565115
RS ID: rs41464951
ClinVar ID: CV30663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA2  LOC106804612  LOC127564971  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 223,597
GRCh38 16 173,598
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_000006.1:g.34461T>C
NC_000016.10:g.173598T>C
NC_000016.9:g.223597T>C
NP_000508.1:p.Ter143Gln
More... 		12/20/2019 stop lost|stop-loss pathogenic|other all ages|variable 1-5 / 10 000|>1 / 1000 A-Thalassemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HBA2
Accession:NM_000517
Location:EXON
Amino Acid Prediction: * to Q (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYRQ
Variant Samples
Additional References at PubMed
PMID:1634361   PMID:2298455   PMID:2468982   PMID:3177365   PMID:4623704   PMID:4944483   PMID:6725554   PMID:7327587   PMID:7502632   PMID:7969150   PMID:9057661   PMID:11836160  
PMID:12393486   PMID:17164653   PMID:20507641   PMID:21077767   PMID:24829075   PMID:25523870   PMID:25741868   PMID:26467025   PMID:26956449   PMID:27271331   PMID:28125089   PMID:28244614  
PMID:28492532   PMID:30615015   PMID:32338097   PMID:32860378   PMID:32925409   PMID:34272389   PMID:35314707   PMID:36459106  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000016891 CLINVAR
  RCV000022602 CLINVAR
  RCV000169546 CLINVAR
  RCV000508088 CLINVAR
dbSNP (RS) rs41464951 CLINVAR
MedGen C0002312 CLINVAR
  C3279561 CLINVAR
  C3661900 CLINVAR
  C3891114 CLINVAR
NCBI Gene 106804612 CLINVAR
  HBA1 CLINVAR
  HBA2 CLINVAR
OMIM 141800 CLINVAR
  141850 CLINVAR
  604131 CLINVAR
OMIM Allele 141850.0001 CLINVAR
SNOMED CT 68913001 CLINVAR