Variant "GCLM:c.588C>T"
Search results: 5 records
Variant information
Gene:
Variant:
GCLM:c.588C>T
Genomic location:
chr1:94375309(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_002061.3:c.-590C>T |
protein_coding | NM_001308253.1:c.-590C>T |
GCLM-ABCA4:n.94375309G>A |
Alias:
GCLM:-588C/T, GCLM:c.-588C>T
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
5
Disorder:
3
Reference:
4
Effect type:
Expressivity(5)
Modifier effect:
Risk factor(4)
,Altered endothelial NO bioactivity(1)
Details: