RGD:8565229 Rat Genome Database

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Variant: RGD:8565229 -  Homo sapiens

RGD ID: 8565229
RS ID: rs33984024
ClinVar ID: CV30842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 227,025
GRCh38 16 177,026
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_000006.1:g.37889G>C
NC_000016.10:g.177026G>C
NC_000016.9:g.227025G>C
NP_000549.1:p.Asp65His
More... 		06/06/2021 missense|missense variant uncertain significance|other A-Thalassemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HBA1
Accession:NM_000558
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVAHALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:949043   PMID:4646552   PMID:7803274   PMID:21045395   PMID:25354131   PMID:26467025   PMID:27207683   PMID:28526955   PMID:31553106   PMID:32448026   PMID:32597250   PMID:32769347  
PMID:33059511   PMID:33887194  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017144 CLINVAR
  RCV000985707 CLINVAR
  RCV001275686 CLINVAR
dbSNP (RS) rs33984024 CLINVAR
MedGen C0002312 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR
  604131 CLINVAR
OMIM Allele 141800.0121 CLINVAR
SNOMED CT 68913001 CLINVAR