Variant "RPGRIP1L:c.2231G>A(p.Arg744Gln)"
Search results: 2 records
Variant information
Gene:
Variant:
RPGRIP1L:c.2231G>A(p.Arg744Gln)
Genomic location:
chr16:53682949(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_015272.4:c.2231G>A(p.Arg744Gln) |
protein_coding | NM_001127897.3:c.2231G>A(p.Arg744Gln) |
protein_coding | NM_001308334.2:c.2231G>A(p.Arg744Gln) |
Alias:
RPGRIP1L:rs2302677
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
Details: