Variant "MYCBPAP:c.371G>A(p.Arg124His)"
Search result: 1 record
Variant information
Gene:
Variant:
MYCBPAP:c.371G>A(p.Arg124His)
Genomic location:
chr17:48594691(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_032133.4:c.371G>A(p.Arg124His) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered onset time(1)
Detail: