Variant "TMPRSS6:c.2246T>C(p.Val749Ala)"
Search results: 2 records
Variant information
Gene:
Variant:
TMPRSS6:c.2246T>C(p.Val749Ala)
Genomic location:
chr22:37462936(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001289000.1:c.2246T>C(p.Val749Ala) |
protein_coding | NM_153609.3:c.2207T>C(p.Val736Ala) |
protein_coding | NM_001289001.1:c.2180T>C(p.Val727Ala) |
protein_coding | NM_001282684.1:c.*4302A>G |
protein_coding | NM_001282685.1:c.*5313A>G |
show all |
Alias:
TMPRSS6:rs855791
dbSNP ID:
GWAS trait:
hepcidin:ferritin ratio,hepcidin:transferrin saturation ratio,hemoglobin measurement,mean corpuscular hemoglobin,mean corpuscular volume,mean corpuscular hemoglobin concentration,hematocrit,iron biomarker measurement,ferritin measurement,transferrin saturation measurement,transferrin measurement,serum iron measurement,clinical laboratory measurement,blood protein measurement,bilirubin measurement,serum hepcidin measurement,A1C measurement,soluble transferrin receptor measurement,red blood cell distribution width,low density lipoprotein cholesterol measurement
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered gene activity(1)
,Altered level of hepcidin(1)
Details: