Variant "IQCB1:c.1178T>A(p.Ile393Asn)"
Search results: 2 records
Variant information
Gene:
Variant:
IQCB1:c.1178T>A(p.Ile393Asn)
Genomic location:
chr3:121507231(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001023570.3:c.1178T>A(p.Ile393Asn) |
protein_coding | NM_001319107.1:c.1178T>A(p.Ile393Asn) |
protein_coding | NM_001023571.3:c.779T>A(p.Ile260Asn) |
pseudogene | NR_134968.1:n.1282T>A |
Alias:
IQCB1:rs1141528
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
Details: