RGD:8564591 Rat Genome Database

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Variant: RGD:8564591 -  Homo sapiens

RGD ID: 8564591
RS ID: rs34264694
ClinVar ID: CV30026
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBG2  LOC106099065  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 5,275,638
GRCh38 11 5,254,408
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_000007.3:g.43208A>C
NC_000011.10:g.5254408T>G
NC_000011.9:g.5275638T>G
NP_000175.1:p.Lys67Gln
More... 		07/02/2021 missense|missense variant likely benign|other none provided

Variant Details
Variant Transcripts
Gene Symbol:HBG2
Accession:NM_000184
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKQVLTSLGDAIKHLD
DLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH*
Variant Samples
Additional References at PubMed
PMID:1703138  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000016127 CLINVAR
  RCV001811144 CLINVAR
dbSNP (RS) rs34264694 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 106099065 CLINVAR
  HBG2 CLINVAR
OMIM 142250 CLINVAR
OMIM Allele 142250.0031 CLINVAR