Variant "FBN2:c.1040G>A(p.Arg347His)"
Search result: 1 record
Variant information
Gene:
Variant:
FBN2:c.1040G>A(p.Arg347His)
Genomic location:
chr5:127744405(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001999.3:c.1040G>A(p.Arg347His) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Detail: