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rs78655421

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Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530975
GeneCFTR
is asnp
is mentioned by
dbSNPrs78655421
ebirs78655421
HLIrs78655421
Exacrs78655421
Varsomers78655421
Maprs78655421
PheGenIrs78655421
hapmaprs78655421
1000 genomesrs78655421
hgdprs78655421
ensemblrs78655421
gopubmedrs78655421
geneviewrs78655421
scholarrs78655421
googlers78655421
pharmgkbrs78655421
gwascentralrs78655421
openSNPrs78655421
23andMers78655421
23andMe allrs78655421
SNP Nexus

SNPshotrs78655421
SNPdbers78655421
MSV3drs78655421
GWAS Ctlgrs78655421
Max Magnitude3

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.

OMIM602421
Desc
Variant0005
Relatedalso
ClinVar
Risk rs78655421(A,C,T;A,C,T)
Alt rs78655421(A,C,T;A,C,T)
Reference rs78655421(G;G)
Significance Pathogenic
Disease Cystic fibrosis Congenital bilateral absence of the vas deferens not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Congenital bilateral absence of the vas deferens not provided
Reversed 0
HGVS NC_000007.13:g.117171029G>A; NC_000007.13:g.117171029G>C; NC_000007.13:g.117171029G>T
CLNSRC CFTR2 HGMD OMIM Allelic Variant
CLNACC RCV000007528.8, RCV000007529.2, RCV000078997.4, RCV000190992.1, RCV000046918.2, RCV000046919.2,