Variant "PEMT:c.634G>A(p.Val212Met)"
Search results: 3 records
Variant information
Gene:
Variant:
PEMT:c.634G>A(p.Val212Met)
Genomic location:
chr17:17409560(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_148172.2:c.634G>A(p.Val212Met) |
protein_coding | NM_001267551.1:c.568G>A(p.Val190Met) |
protein_coding | NM_148173.1:c.523G>A(p.Val175Met) |
protein_coding | NM_007169.2:c.523G>A(p.Val175Met) |
protein_coding | NM_001267552.1:c.665G>A(p.Ser222Asn) |
Alias:
PEMT:V175M, PEMT:c.523G>A
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
3
Disorder:
1
Reference:
3
Effect type:
Expressivity(3)
Modifier effect:
Risk factor(2)
,Altered severity(1)
Details: