Variant "KLHDC4:c.166C>G(p.Leu56Val)"
Search result: 1 record
Variant information
Gene:
Variant:
KLHDC4:c.166C>G(p.Leu56Val)
Genomic location:
chr16:87795580(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_017566.3:c.166C>G(p.Leu56Val) |
protein_coding | NM_001184856.1:c.166C>G(p.Leu56Val) |
pseudogene | NR_120309.1:n.*4357C>G |
protein_coding | NM_001184854.1:c.99+3818C>G |
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: