Variant "SPARC:c.55C>T(p.Pro19Ser)"
Search result: 1 record
Variant information
Gene:
Variant:
SPARC:c.55C>T(p.Pro19Ser)
Genomic location:
chr5:151055695(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001309444.1:c.55C>T(p.Pro19Ser) |
protein_coding | NM_001309443.1:c.55C>T(p.Pro19Ser) |
protein_coding | NM_003118.3:c.55C>T(p.Pro19Ser) |
pseudogene | NR_109873.1:n.-811G>A |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered HbF production(1)
Detail: