Variant "ROM1:c.686G>A(p.Arg229His)"
Search results: 3 records
Variant information
Gene:
Variant:
ROM1:c.686G>A(p.Arg229His)
Genomic location:
chr11:62381825(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000327.3:c.686G>A(p.Arg229His) |
protein_coding | NM_001300793.1:c.-1896C>T |
protein_coding | NM_001300794.1:c.-1896C>T |
protein_coding | NM_153265.2:c.-1896C>T |
protein_coding | NM_012200.3:c.*1348C>T |
show all |
Alias:
ROM1:rs150168119
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
3
Disorder:
3
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Altered severity(3)
Details: