Variant "GBA:c.1342G>C(p.Asp448His)"
Search result: 1 record
Variant information
Gene:
Variant:
GBA:c.1342G>C(p.Asp448His)
Genomic location:
chr1:155205518(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000157.3:c.1342G>C(p.Asp448His) |
protein_coding | NM_001005741.2:c.1342G>C(p.Asp448His) |
protein_coding | NM_001005742.2:c.1342G>C(p.Asp448His) |
protein_coding | NM_001171812.1:c.1195G>C(p.Asp399His) |
protein_coding | NM_001171811.1:c.1081G>C(p.Asp361His) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Detail: