RGD:8565224 Rat Genome Database

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Variant: RGD:8565224 -  Homo sapiens

RGD ID: 8565224
RS ID: rs33991910
ClinVar ID: CV30831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 227,405
GRCh38 16 177,406
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.38269C>T
NC_000016.10:g.177406C>T
NC_000016.9:g.227405C>T
NP_000549.1:p.Arg142Cys
More... 		05/21/2018 missense|missense variant pathogenic|other ERYTHROCYTOSIS 7; ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE; POLYCYTHEMIA, ALPHA-GLOBIN TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HBA1
Accession:NM_000558
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000017126 CLINVAR
  RCV000641200 CLINVAR
dbSNP (RS) rs33991910 CLINVAR
MedGen C4693823 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR
  617981 CLINVAR
OMIM Allele 141800.0109 CLINVAR