rs1042077

plus

Geno	Mag	Summary
(T;T)	0	common/normal

Make rs1042077(G;G)

Make rs1042077(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

117595001

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs1042077
dbSNP (classic)	rs1042077
ClinGen	rs1042077
ebi	rs1042077
HLI	rs1042077
Exac	rs1042077
Gnomad	rs1042077
Varsome	rs1042077
LitVar	rs1042077
Map	rs1042077
PheGenI	rs1042077
Biobank	rs1042077
1000 genomes	rs1042077
hgdp	rs1042077
ensembl	rs1042077
geneview	rs1042077
scholar	rs1042077
google	rs1042077
pharmgkb	rs1042077
gwascentral	rs1042077
openSNP	rs1042077
23andMe	rs1042077
SNPshot	rs1042077
SNPdbe	rs1042077
MSV3d	rs1042077
GWAS Ctlg	rs1042077

Max Magnitude

0

?

(G;G) (G;T) (T;T)

28

rs1042077, also known as c.2562T>G, T2562G, and p.Thr854=, is a common synonymous polymorphism in the CFTR gene.

Since this particular nucleotide change does not change the amino acid at the corresponding codon of the cystic fibrosis protein, and is thus considered a 'silent mutation', the observation that cystic fibrosis patients seem to often have this variant has been puzzling.

Researchers in 2017 have published a finding that they feel explains how this silent change results in lowered amount of functional protein - the tRNA responsible for processing the variant codon is relatively rare in lung cells, leading to detrimental changes in protein stability and function. This may be a model for how other silent mutations affect protein function.[PMID 28510592 ]

ClinVar
Risk	rs1042077(A;A) rs1042077(G;G)
Alt	rs1042077(A;A) rs1042077(G;G)
Reference	Rs1042077(T;T)
Significance	Other
Disease	not specified Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	not specified Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117235055T>G
CLNSRC	HGMD
CLNACC	RCV000036519.10, RCV000329705.1,