Variant "MYLK:c.2693G>A(p.Arg898Gln)"
Search result: 1 record
Variant information
Gene:
Variant:
MYLK:c.2693G>A(p.Arg898Gln)
Genomic location:
chr3:123419622(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_053025.3:c.2693G>A(p.Arg898Gln) |
protein_coding | NM_053027.3:c.2693G>A(p.Arg898Gln) |
protein_coding | NM_053026.3:c.2486G>A(p.Arg829Gln) |
protein_coding | NM_053028.3:c.2486G>A(p.Arg829Gln) |
protein_coding | NM_001321309.1:c.2165G>A(p.Arg722Gln) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Detail: