RGD:11550498 Rat Genome Database

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Variant: RGD:11550498 -  Homo sapiens

RGD ID: 11550498
RS ID: rs115270691
ClinVar ID: CV257678
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMPRSS6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 37,499,565
GRCh38 22 37,103,525
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012856.2:g.11039C>T
NC_000022.11:g.37103525G>A
NC_000022.10:g.37499565G>A
NP_705837.1:p.Phe5=
More... 		06/14/2016 5 prime utr variant|intron variant benign|uncertain significance infancy <1 / 1 000 000 AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TMPRSS6
Accession:NM_153609
Location:5UTRS;EXON

Gene Symbol:TMPRSS6
Accession:XM_047441170
Location:5UTRS;INTRON

Gene Symbol:TMPRSS6
Accession:XM_024452168
Location:5UTRS;INTRON

Gene Symbol:TMPRSS6
Accession:NM_001374504
Location:5UTRS;INTRON

Gene Symbol:TMPRSS6
Accession:XM_047441171
Location:5UTRS;INTRON

Gene Symbol:TMPRSS6
Accession:XM_011529989
Location:5UTRS;INTRON

Gene Symbol:TMPRSS6
Accession:NM_001289001
Location:5UTRS;INTRON

Gene Symbol:TMPRSS6
Accession:NM_001289000
Location:5UTRS;INTRON

Gene Symbol:TMPRSS6
Accession:XM_024452167
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251832 CLINVAR
  RCV000373100 CLINVAR
  RCV002058425 CLINVAR
dbSNP (RS) rs115270691 CLINVAR
MedGen C3661900 CLINVAR
  C5194182 CLINVAR
  CN169374 CLINVAR
NCBI Gene TMPRSS6 CLINVAR
OMIM 609862 CLINVAR
SNOMED CT 234349007 CLINVAR