Variant "CDKN2A:c.339G>C(p.Pro113Pro)"
Search result: 1 record
Variant information
Gene:
Variant:
CDKN2A:c.339G>C(p.Pro113Pro)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_058195.3:c.339G>C(p.Pro113Pro) |
protein_coding | NM_001195132.1:c.296G>C(p.Arg99Pro) |
protein_coding | NM_000077.4:c.296G>C(p.Arg99Pro) |
protein_coding | NM_058197.4:c.*219G>C |
pseudogene | NR_024274.1:n.*3309C>G |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Prevention of disease(1)
Detail: