Variant "CDKN2A:c.301G>C(p.Gly101Arg)"
Search result: 1 record
Variant information
Gene:
Variant:
CDKN2A:c.301G>C(p.Gly101Arg)
Genomic location:
chr9:21971057(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001195132.1:c.301G>C(p.Gly101Arg) |
protein_coding | NM_000077.4:c.301G>C(p.Gly101Arg) |
protein_coding | NM_058195.3:c.344G>C(p.Arg115Pro) |
protein_coding | NM_058197.4:c.*224G>C |
pseudogene | NR_024274.1:n.*3304C>G |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: