Variant "LTBP4:c.2359A>G(p.Thr787Ala)"
Search result: 1 record
Variant information
Gene:
Variant:
LTBP4:c.2359A>G(p.Thr787Ala)
Genomic location:
chr19:41117869(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001042544.1:c.2359A>G(p.Thr787Ala) |
protein_coding | NM_003573.2:c.2248A>G(p.Thr750Ala) |
protein_coding | NM_001042545.1:c.2158A>G(p.Thr720Ala) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered membrane damage and fibrosis(1)
Detail: