Variant "RNF213:c.14429G>A(p.Arg4810Lys)"
Search result: 1 record
Variant information
Gene:
Variant:
RNF213:c.14429G>A(p.Arg4810Lys)
Genomic location:
chr17:78358945(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001256071.2:c.14429G>A(p.Arg4810Lys) |
pseudogene | NR_029376.1:n.240+29784C>T |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Detail: