rs193922372

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	3	double deletion (mutation); Lynch syndrome? but see warning
(-;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT)	6	Lynch syndrome mutation (reported)
(ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGAT;ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGAT)	0	common in clinvar

Make rs193922372(CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47429673

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs193922372
dbSNP (classic)	rs193922372
ClinGen	rs193922372
ebi	rs193922372
HLI	rs193922372
Exac	rs193922372
Gnomad	rs193922372
Varsome	rs193922372
LitVar	rs193922372
Map	rs193922372
PheGenI	rs193922372
Biobank	rs193922372
1000 genomes	rs193922372
hgdp	rs193922372
ensembl	rs193922372
geneview	rs193922372
scholar	rs193922372
google	rs193922372
pharmgkb	rs193922372
gwascentral	rs193922372
openSNP	rs193922372
23andMe	rs193922372
SNPshot	rs193922372
SNPdbe	rs193922372
MSV3d	rs193922372
GWAS Ctlg	rs193922372

Max Magnitude

6

rs193922372, also known as c.1077-69_1143del136, represents a rare deletion variant in the MSH2 gene on chromosome 2.

ClinVar
Risk	Rs193922372(-;-)
Alt	Rs193922372(-;-)
Reference	Property "RefGeno" (as page type) with input value "rs193922372(CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT)" contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.rs193922372(CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT)
Significance	Probable-Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47656812_47656947del136
CLNSRC	ClinVar
CLNACC	RCV000030236.1,