Variant "FAM47E:c.787A>C(p.Lys263Gln)"
Search result: 1 record
Variant information
Gene:
Variant:
FAM47E:c.787A>C(p.Lys263Gln)
Genomic location:
chr4:77192838(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001136570.2:c.787A>C(p.Lys263Gln) |
protein_coding | NM_001242939.1:c.787A>C(p.Lys263Gln) |
protein_coding | NM_001242936.1:c.493A>C(p.Lys165Gln) |
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: