rs74551128
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Cystic fibrosis allele (carrier) |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier of a cystic fibrosis allele |
| (T;T) | 8 | Cystic fibrosis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117548795 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74551128 |
| dbSNP (classic) | rs74551128 |
| ClinGen | rs74551128 |
| ebi | rs74551128 |
| HLI | rs74551128 |
| Exac | rs74551128 |
| Gnomad | rs74551128 |
| Varsome | rs74551128 |
| LitVar | rs74551128 |
| Map | rs74551128 |
| PheGenI | rs74551128 |
| Biobank | rs74551128 |
| 1000 genomes | rs74551128 |
| hgdp | rs74551128 |
| ensembl | rs74551128 |
| geneview | rs74551128 |
| scholar | rs74551128 |
| rs74551128 | |
| pharmgkb | rs74551128 |
| gwascentral | rs74551128 |
| openSNP | rs74551128 |
| 23andMe | rs74551128 |
| SNPshot | rs74551128 |
| SNPdbe | rs74551128 |
| MSV3d | rs74551128 |
| GWAS Ctlg | rs74551128 |
| Max Magnitude | 8 |
rs74551128, also known as c.1364C>A, A455E or p.Ala455Glu, is a cystic fibrosis mutation. Note that this SNP is on the minus (reverse) strand in dbSNP and in SNPedia.
An additional variant for this SNP, c.1364C>T (p.Ala455Val or A445V) is considered a variant of uncertain significance in ClinVar.
A455E is named i4000291, and previously, i5006050, and i5011205, by 23andMe
| ClinVar | |
|---|---|
| Risk | rs74551128(A;A) Rs74551128(T;T) |
| Alt | rs74551128(A;A) Rs74551128(T;T) |
| Reference | Rs74551128(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 1 |
| HGVS | NC_000007.13:g.117188849C>A; NC_000007.13:g.117188849C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007531.8, RCV000474081.1, |
