Variant "TOR2A:c.793C>T(p.Arg265Trp)"
Search result: 1 record
Variant information
Gene:
Variant:
TOR2A:c.793C>T(p.Arg265Trp)
Genomic location:
chr9:130494486(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001085347.2:c.793C>T(p.Arg265Trp) |
protein_coding | NM_001252018.1:c.307C>T(p.Arg103Trp) |
protein_coding | NM_001252021.1:c.307C>T(p.Arg103Trp) |
protein_coding | NM_001252023.1:c.179C>T(p.Ala60Val) |
protein_coding | NM_001134430.2:c.665C>T(p.Ala222Val) |
show all |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered glomerular filtration rate(1)
Detail: