rs80338840

Orientation

minus

Stabilized

minus

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

Make rs80338840(-;-)

Make rs80338840(-;AC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154371180

Gene

FLNA

is a	snp
is	mentioned by
dbSNP	rs80338840
dbSNP (classic)	rs80338840
ClinGen	rs80338840
ebi	rs80338840
HLI	rs80338840
Exac	rs80338840
Gnomad	rs80338840
Varsome	rs80338840
LitVar	rs80338840
Map	rs80338840
PheGenI	rs80338840
Biobank	rs80338840
1000 genomes	rs80338840
hgdp	rs80338840
ensembl	rs80338840
geneview	rs80338840
scholar	rs80338840
google	rs80338840
pharmgkb	rs80338840
gwascentral	rs80338840
openSNP	rs80338840
23andMe	rs80338840
SNPshot	rs80338840
SNPdbe	rs80338840
MSV3d	rs80338840
GWAS Ctlg	rs80338840

Max Magnitude

0

OMIM	300017
Desc
Variant	0025
Related	also

ClinVar
Risk	rs80338840(-;-)
Alt	rs80338840(-;-)
Reference	Rs80338840(AC;AC)
Significance	Pathogenic
Disease	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Variation	info
Gene	FLNA
CLNDBN	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Reversed	1
HGVS	NC_000023.10:g.153599548_153599549delGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012537.15,

[PMID 8644737] The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.

[PMID 17357080] Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.