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rs80338840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs80338840(-;-)
Make rs80338840(-;AC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154371180
GeneFLNA
is asnp
is mentioned by
dbSNPrs80338840
ebirs80338840
HLIrs80338840
Exacrs80338840
Varsomers80338840
Maprs80338840
PheGenIrs80338840
hapmaprs80338840
1000 genomesrs80338840
hgdprs80338840
ensemblrs80338840
gopubmedrs80338840
geneviewrs80338840
scholarrs80338840
googlers80338840
pharmgkbrs80338840
gwascentralrs80338840
openSNPrs80338840
23andMers80338840
23andMe allrs80338840
SNP Nexus

SNPshotrs80338840
SNPdbers80338840
MSV3drs80338840
GWAS Ctlgrs80338840
Max Magnitude0
OMIM300017
Desc
Variant0025
Relatedalso
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 8644737OA-icon.png] The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.


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