Variant "MKS1:c.248A>G(p.Asp83Gly)"
Search result: 1 record
Variant information
Gene:
Variant:
MKS1:c.248A>G(p.Asp83Gly)
Genomic location:
chr17:56290344(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001321268.1:c.248A>G(p.Asp83Gly) |
protein_coding | NM_001321269.1:c.857A>G(p.Asp286Gly) |
protein_coding | NM_017777.3:c.857A>G(p.Asp286Gly) |
protein_coding | NM_001165927.1:c.827A>G(p.Asp276Gly) |
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: