RGD:8654733 Rat Genome Database

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Variant: RGD:8654733 -  Homo sapiens

RGD ID: 8654733
RS ID: rs41469945
ClinVar ID: CV30694
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA2  LOC106804612  LOC127564971  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 223,580
GRCh38 16 173,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_000006.1:g.34444T>C
NC_000016.10:g.173581T>C
NC_000016.9:g.223580T>C
NP_000508.1:p.Leu137Pro
More... 		01/01/2017 missense variant pathogenic|other <1 / 1 000 000 Anemia (disease); Enlarged Spleen; Heinz body anemias; Heinz body hemolytic anemia; Splenomegaly
Disease Annotations     Click to see Annotation Detail View
anemia  (IAGP)
Heinz body anemia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Anemia  (IAGP)
Heinz body anemia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:HBA2
Accession:NM_000517
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVPTSKYR*
Variant Samples
Additional References at PubMed
PMID:5639009   PMID:7558871   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000203221 CLINVAR
  RCV000626695 CLINVAR
dbSNP (RS) rs41469945 CLINVAR
MedGen C0002871 CLINVAR
  C0700299 CLINVAR
NCBI Gene 106804612 CLINVAR
  HBA1 CLINVAR
  HBA2 CLINVAR
OMIM 140700 CLINVAR
  141800 CLINVAR
  141850 CLINVAR
OMIM Allele 141850.0030 CLINVAR