Variant "SIPA1:c.545C>T(p.Ser182Phe)"
Search result: 1 record
Variant information
Gene:
Variant:
SIPA1:c.545C>T(p.Ser182Phe)
Genomic location:
chr11:65408937(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_006747.3:c.545C>T(p.Ser182Phe) |
protein_coding | NM_153253.29:c.545C>T(p.Ser182Phe) |
protein_coding | NM_153253.29:c.545C>T |
protein_coding | NM_032223.3:c.*4488C>T |
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: