Variant "LTBP4:c.2458A>G(p.Thr820Ala)"
Search result: 1 record
Variant information
Gene:
Variant:
LTBP4:c.2458A>G(p.Thr820Ala)
Genomic location:
chr19:41118056(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001042544.1:c.2458A>G(p.Thr820Ala) |
protein_coding | NM_003573.2:c.2347A>G(p.Thr783Ala) |
protein_coding | NM_001042545.1:c.2257A>G(p.Thr753Ala) |
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: