Variant "KLHDC4:c.218G>T(p.Gly73Val)"
Search result: 1 record
Variant information
Gene:
Variant:
KLHDC4:c.218G>T(p.Gly73Val)
Genomic location:
chr16:87782396(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001184854.1:c.218G>T(p.Gly73Val) |
protein_coding | NM_017566.3:c.389G>T(p.Gly130Val) |
protein_coding | NM_001184856.1:c.389G>T(p.Gly130Val) |
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: