RGD:8654750 Rat Genome Database

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Variant: RGD:8654750 -  Homo sapiens

RGD ID: 8654750
RS ID: rs34071856
ClinVar ID: CV30737
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 227,074
GRCh38 16 177,075
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.37938T>G
NC_000016.10:g.177075T>G
NC_000016.9:g.227074T>G
NP_000549.1:p.Leu81Arg
More... 		05/10/2018 missense variant other

Variant Details
Variant Transcripts
Gene Symbol:HBA1
Accession:NM_000558
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
RSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:4530655   PMID:5033650  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000016990 CLINVAR
dbSNP (RS) rs34071856 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR
OMIM Allele 141800.0004 CLINVAR