RGD:8565154 Rat Genome Database

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Variant: RGD:8565154 -  Homo sapiens

RGD ID: 8565154
RS ID: rs41397847
ClinVar ID: CV30729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA2  LOC106804612  LOC127564971  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 223,547
GRCh38 16 173,548
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.34411T>G
NC_000016.10:g.173548T>G
NC_000016.9:g.223547T>G
NP_000508.1:p.Leu126Arg
More... 		11/01/2019 missense|missense variant pathogenic|other A-Thalassemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HBA2
Accession:NM_000517
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASRDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:15921163   PMID:21077766   PMID:23368878   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000016981 CLINVAR
  RCV000985724 CLINVAR
  RCV001826473 CLINVAR
dbSNP (RS) rs41397847 CLINVAR
MedGen C0002312 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106804612 CLINVAR
  HBA2 CLINVAR
OMIM 141850 CLINVAR
  604131 CLINVAR
OMIM Allele 141850.0067 CLINVAR
SNOMED CT 68913001 CLINVAR