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rs28935473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28935473(C;T)
Make rs28935473(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154360199
GeneFLNA
is asnp
is mentioned by
dbSNPrs28935473
ebirs28935473
HLIrs28935473
Exacrs28935473
Varsomers28935473
Maprs28935473
PheGenIrs28935473
hapmaprs28935473
1000 genomesrs28935473
hgdprs28935473
ensemblrs28935473
gopubmedrs28935473
geneviewrs28935473
scholarrs28935473
googlers28935473
pharmgkbrs28935473
gwascentralrs28935473
openSNPrs28935473
23andMers28935473
23andMe allrs28935473
SNP Nexus

SNPshotrs28935473
SNPdbers28935473
MSV3drs28935473
GWAS Ctlgrs28935473
Max Magnitude0
OMIM300017
DescMELNICK-NEEDLES SYNDROME
Variant0013
Relatedalso
Neighborrs28935472
Distance34


ClinVar
Risk rs28935473(T;T)
Alt rs28935473(T;T)
Reference rs28935473(C;C)
Significance Pathogenic
Disease Melnick-Needles syndrome
Variation info
Gene FLNA
CLNDBN Melnick-Needles syndrome
Reversed 1
HGVS NC_000023.10:g.153588567G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012525.16,



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


[PMID 16538226] Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.