Variant "MKS1:c.368G>A(p.Arg123Gln)"
Search result: 1 record
Variant information
Gene:
Variant:
MKS1:c.368G>A(p.Arg123Gln)
Genomic location:
chr17:56293498(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001321269.1:c.368G>A(p.Arg123Gln) |
protein_coding | NM_017777.3:c.368G>A(p.Arg123Gln) |
protein_coding | NM_001165927.1:c.338G>A(p.Arg113Gln) |
protein_coding | NM_001321268.1:c.-144G>A |
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: