RGD:8565227 Rat Genome Database

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Variant: RGD:8565227 -  Homo sapiens

RGD ID: 8565227
RS ID: rs63751008
ClinVar ID: CV30837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 227,345
GRCh38 16 177,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000558.3:c.364G>A
NC_000016.10:g.177346G>A
NC_000016.9:g.227345G>A
NP_000549.1:p.Val122Met
More... 		05/10/2018 missense|missense variant uncertain significance|other A-Thalassemia; AllHighlyPenetrant; 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: V to M (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAMHASLDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:3754245   PMID:7068434   PMID:20144601   PMID:21599435   PMID:24200101   PMID:25669128   PMID:26467025   PMID:31553106  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017138 CLINVAR
  RCV000506427 CLINVAR
  RCV001275689 CLINVAR
  RCV001281703 CLINVAR
dbSNP (RS) rs63751008 CLINVAR
MedGen C0002312 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR
  604131 CLINVAR
OMIM Allele 141800.0115 CLINVAR
SNOMED CT 68913001 CLINVAR