Variant "ABCA4:c.514G>A(p.Gly172Ser)"
Search results: 2 records
Variant information
Gene:
Variant:
ABCA4:c.514G>A(p.Gly172Ser)
Genomic location:
chr1:94568627(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000350.2:c.514G>A(p.Gly172Ser) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
Details: