rs863225300

minus

Geno	Mag	Summary
(A;C)	7	Choreoathetosis, hypothyroidism, and neonatal respiratory distress
(C;C)	0	common in clinvar

Make rs863225300(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

36517960

Gene	NKX2-1, NKX2-1-AS1, SFTA3

is a	snp
is	mentioned by
dbSNP	rs863225300
dbSNP (classic)	rs863225300
ClinGen	rs863225300
ebi	rs863225300
HLI	rs863225300
Exac	rs863225300
Gnomad	rs863225300
Varsome	rs863225300
LitVar	rs863225300
Map	rs863225300
PheGenI	rs863225300
Biobank	rs863225300
1000 genomes	rs863225300
hgdp	rs863225300
ensembl	rs863225300
geneview	rs863225300
scholar	rs863225300
google	rs863225300
pharmgkb	rs863225300
gwascentral	rs863225300
openSNP	rs863225300
23andMe	rs863225300
SNPshot	rs863225300
SNPdbe	rs863225300
MSV3d	rs863225300
GWAS Ctlg	rs863225300

Max Magnitude

7

aka c.524C>A (p.Ser175Ter, S175X or S175*)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Choreoathetosis, hypothyroidism, and neonatal respiratory distress

ClinVar
Risk	rs863225300(A;A)
Alt	rs863225300(A;A)
Reference	Rs863225300(C;C)
Significance	Pathogenic
Disease	Choreoathetosis
Variation	info
Gene	NKX2-1-AS1 SFTA3 NKX2-1
CLNDBN	Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Reversed	1
HGVS	NC_000014.8:g.36987165G>T
CLNSRC
CLNACC	RCV000201946.1,