rs121434638

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121434638(A;A)

Make rs121434638(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

1933737

Gene

TNNT3

is a	snp
is	mentioned by
dbSNP	rs121434638
dbSNP (classic)	rs121434638
ClinGen	rs121434638
ebi	rs121434638
HLI	rs121434638
Exac	rs121434638
Gnomad	rs121434638
Varsome	rs121434638
LitVar	rs121434638
Map	rs121434638
PheGenI	rs121434638
Biobank	rs121434638
1000 genomes	rs121434638
hgdp	rs121434638
ensembl	rs121434638
geneview	rs121434638
scholar	rs121434638
google	rs121434638
pharmgkb	rs121434638
gwascentral	rs121434638
openSNP	rs121434638
23andMe	rs121434638
SNPshot	rs121434638
SNPdbe	rs121434638
MSV3d	rs121434638
GWAS Ctlg	rs121434638

Max Magnitude

0

OMIM	600692
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434638(A;A)
Alt	rs121434638(A;A)
Reference	Rs121434638(G;G)
Significance	Pathogenic
Disease	Distal arthrogryposis type 2B not provided Arthyrgryposis
Variation	info
Gene	TNNT3
CLNDBN	Distal arthrogryposis type 2B not provided Arthyrgryposis, distal, type 2B
Reversed	0
HGVS	NC_000011.9:g.1954967G>A
CLNSRC	Leiden Muscular Dystrophy pages (TNNT3) OMIM Allelic Variant
CLNACC	RCV000009468.3, RCV000024561.2, RCV000194919.1,

[PMID 12865991] Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.

[PMID 19142688] Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.