RGD:8565292 Rat Genome Database

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Variant: RGD:8565292 -  Homo sapiens

RGD ID: 8565292
RS ID: rs1061009
ClinVar ID: CV30924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 227,102
GRCh38 16 177,103
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.37966C>G
NC_000016.10:g.177103C>G
NC_000016.9:g.227102C>G
NM_000558.3:c.270C>G
More... 		01/10/2019 missense|missense variant likely benign|other 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: H to Q (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAQKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:12403494   PMID:15481890  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017231 CLINVAR
  RCV001811185 CLINVAR
dbSNP (RS) rs1061009 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR
OMIM Allele 141800.0212 CLINVAR