RGD:11593478 Rat Genome Database

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Variant: RGD:11593478 -  Homo sapiens

RGD ID: 11593478
RS ID: rs57705126
ClinVar ID: CV295692
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 74,283,242
GRCh38 4 73,417,525
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009291.1:g.18271T>C
NC_000004.12:g.73417525T>C
NC_000004.11:g.74283242T>C
NM_000477.5:c.1290-6T>C
More... 		03/02/2018 intron variant benign|uncertain significance EUTHYROID HYPERTHYROXINEMIA 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALB
Accession:NM_000477
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000349266 CLINVAR
  RCV000888412 CLINVAR
dbSNP (RS) rs57705126 CLINVAR
MedGen C0342185 CLINVAR
  C3661900 CLINVAR
NCBI Gene ALB CLINVAR
OMIM 103600 CLINVAR
  615999 CLINVAR