Variant "COL5A1:c.4240G>A(p.Asp1414Asn)"
Search result: 1 record
Variant information
Gene:
Variant:
COL5A1:c.4240G>A(p.Asp1414Asn)
Genomic location:
chr9:137710511(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000093.4:c.4240G>A(p.Gly1414Ser) |
protein_coding | NM_001278074.1:c.4240G>A(p.Gly1414Ser) |
pseudogene | NR_103451.2:n.*750C>T |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Detail: