Variant "RPGRIP1L:c.685G>A(p.Ala229Thr)"
Search result: 1 record
Variant information
Gene:
Variant:
RPGRIP1L:c.685G>A(p.Ala229Thr)
Genomic location:
chr16:53720436(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_015272.4:c.685G>A(p.Ala229Thr) |
protein_coding | NM_001127897.3:c.685G>A(p.Ala229Thr) |
protein_coding | NM_001308334.2:c.685G>A(p.Ala229Thr) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Detail: