Variant "LTBP4:c.3311C>T(p.Thr1104Met)"
Search results: 2 records
Variant information
Gene:
Variant:
LTBP4:c.3311C>T(p.Thr1104Met)
Genomic location:
chr19:41128309(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001042544.1:c.3419C>T(p.Thr1140Met) |
protein_coding | NM_003573.2:c.3308C>T(p.Thr1103Met) |
protein_coding | NM_001042545.1:c.3218C>T(p.Thr1073Met) |
Alias:
LTBP4:c.3419C>T(p.Thr1140Met)
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(1)
,Penetrance(1)
Modifier effect:
Altered incidence(1)
,Altered membrane damage and fibrosis(1)
Details: