Variant "MKS1:c.1476T>G(p.Cys492Trp)"
Search result: 1 record
Variant information
Gene:
Variant:
MKS1:c.1476T>G(p.Cys492Trp)
Genomic location:
chr17:56283840(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_017777.3:c.1476T>G(p.Cys492Trp) |
protein_coding | NM_001165927.1:c.1446T>G(p.Cys482Trp) |
protein_coding | NM_001321268.1:c.867T>G(p.Cys289Trp) |
protein_coding | NM_000502.5:c.*2056A>C |
protein_coding | NM_001321269.1:c.1408-99T>G |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Pleiotropy(1)
Modifier effect:
Novel seizure phenotype(1)
Detail: