Variant "ATM:c.5557G>A(p.Asp1853Asn)"
Search results: 4 records
Variant information
Gene:
Variant:
ATM:c.5557G>A(p.Asp1853Asn)
Genomic location:
chr11:108175462(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000051.3:c.5557G>A(p.Asp1853Asn) |
Alias:
ATM:c.G5557A, ATM:1853N, ATM:1853D
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
4
Disorder:
3
Reference:
3
Effect type:
Expressivity(2)
,Penetrance(2)
Modifier effect:
Altered incidence(2)
,Risk factor(2)
Details: