Variant "CFTR:c.1657C>T(p.Arg553*)"
Search result: 1 record
Variant information
Gene:
Variant:
CFTR:c.1657C>T(p.Arg553*)
Genomic location:
chr7:117227865(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000492.3:c.1657C>T(p.Arg553*) |
protein_coding | 2BBS:A_495-A_553:NM_000492.3:c.1657C>T |
protein_coding | 2BBT:B_495-B_553:NM_000492.3:c.1657C>T |
protein_coding | 2PZF:B_494-B_553:NM_000492.3:c.1657C>T |
protein_coding | 2PZF:B_495-B_553:NM_000492.3:c.1657C>T |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: