rs78655421
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Possible cystic fibrosis allele carrier, but of low penetrance |
| (G;G) | 0 | common in clinvar |
| Make rs78655421(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117530975 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78655421 |
| dbSNP (classic) | rs78655421 |
| ClinGen | rs78655421 |
| ebi | rs78655421 |
| HLI | rs78655421 |
| Exac | rs78655421 |
| Gnomad | rs78655421 |
| Varsome | rs78655421 |
| LitVar | rs78655421 |
| Map | rs78655421 |
| PheGenI | rs78655421 |
| Biobank | rs78655421 |
| 1000 genomes | rs78655421 |
| hgdp | rs78655421 |
| ensembl | rs78655421 |
| geneview | rs78655421 |
| scholar | rs78655421 |
| rs78655421 | |
| pharmgkb | rs78655421 |
| gwascentral | rs78655421 |
| openSNP | rs78655421 |
| 23andMe | rs78655421 |
| SNPshot | rs78655421 |
| SNPdbe | rs78655421 |
| MSV3d | rs78655421 |
| GWAS Ctlg | rs78655421 |
| Max Magnitude | 3 |
This cystic fibrosis variant, c.350G>A, known as Arg117His or R117H and associated with a G>A mutation, is reported to have either mild or perhaps even no clinical consequences, apparently depending heavily on the length of the polypyrimidine tract in the splice acceptor site in intron 8 and possibly other variants as well. A good write-up on this can be found in OMIM 602421.0005.
Other mutations possible at this position are G>C (Arg117Pro) and G>T (Arg117Leu), but their effect is not listed in ClinVar or CFTR2.
rs78655421 is also named i5010839, i5006049 and i4000295 by 23andMe; while for them, i5010838 represents the G>C mutation and i5010837 the G>T.
FTDNA & MyHeritage name: VG07S29628
| ClinVar | |
|---|---|
| Risk | rs78655421(A;A) rs78655421(C;C) rs78655421(T;T) |
| Alt | rs78655421(A;A) rs78655421(C;C) rs78655421(T;T) |
| Reference | Rs78655421(G;G) |
| Significance | Drug-response |
| Disease | Cystic fibrosis Congenital bilateral absence of the vas deferens not provided Hereditary pancreatitis ivacaftor response - Efficacy |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Congenital bilateral absence of the vas deferens not provided Hereditary pancreatitis ivacaftor response - Efficacy |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117171029G>A; NC_000007.13:g.117171029G>C; NC_000007.13:g.117171029G>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007528.8, RCV000007529.3, RCV000078997.5, RCV000190992.1, RCV000266539.1, RCV000417156.1, RCV000046918.2, RCV000046919.2, |
