Have questions? Visit https://www.reddit.com/r/SNPedia

rs28935472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28935472(A;A)
Make rs28935472(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154360233
GeneFLNA
is asnp
is mentioned by
dbSNPrs28935472
ebirs28935472
HLIrs28935472
Exacrs28935472
Varsomers28935472
Maprs28935472
PheGenIrs28935472
hapmaprs28935472
1000 genomesrs28935472
hgdprs28935472
ensemblrs28935472
gopubmedrs28935472
geneviewrs28935472
scholarrs28935472
googlers28935472
pharmgkbrs28935472
gwascentralrs28935472
openSNPrs28935472
23andMers28935472
23andMe allrs28935472
SNP Nexus

SNPshotrs28935472
SNPdbers28935472
MSV3drs28935472
GWAS Ctlgrs28935472
Max Magnitude0
OMIM300017
DescMELNICK-NEEDLES SYNDROME
Variant0012
Relatedalso
Neighborrs28935473
Distance34
Neighborrs28935471
Distance86


ClinVar
Risk rs28935472(A;A)
Alt rs28935472(A;A)
Reference rs28935472(G;G)
Significance Pathogenic
Disease Melnick-Needles syndrome
Variation info
Gene FLNA
CLNDBN Melnick-Needles syndrome
Reversed 1
HGVS NC_000023.10:g.153588601C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012524.25,



[PMID 12612583] Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.