Variant "MEFV:c.1105C>T(p.Pro369Ser)"
Search result: 1 record
Variant information
Gene:
Variant:
MEFV:c.1105C>T(p.Pro369Ser)
Genomic location:
chr16:3299586(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000243.2:c.1105C>T(p.Pro369Ser) |
protein_coding | NM_001198536.1:c.472C>T(p.Pro158Ser) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered susceptibility(1)
Detail: