Variant "AHI1:c.2488C>T(p.Arg830Trp)"
Search results: 2 records
Variant information
Gene:
Variant:
AHI1:c.2488C>T(p.Arg830Trp)
Genomic location:
chr6:135751024(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001134830.1:c.2488C>T(p.Arg830Trp) |
protein_coding | NM_001134831.1:c.2488C>T(p.Arg830Trp) |
protein_coding | NM_017651.4:c.2488C>T(p.Arg830Trp) |
protein_coding | NM_001134832.1:c.2488C>T(p.Arg830Trp) |
Alias:
AHI1:rs13312995
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered sensorimotor symptoms(1)
,Altered severity(1)
Details: