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rs121909626

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909626(C;G)
Make rs121909626(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position152307225
GeneFLG
is asnp
is mentioned by
dbSNPrs121909626
dbSNP (old)rs121909626
ClinGenrs121909626
ebirs121909626
HLIrs121909626
Exacrs121909626
Gnomadrs121909626
Varsomers121909626
Maprs121909626
PheGenIrs121909626
Biobankrs121909626
1000 genomesrs121909626
hgdprs121909626
ensemblrs121909626
gopubmedrs121909626
geneviewrs121909626
scholarrs121909626
googlers121909626
pharmgkbrs121909626
gwascentralrs121909626
openSNPrs121909626
23andMers121909626
23andMe allrs121909626
SNPshotrs121909626
SNPdbers121909626
MSV3drs121909626
GWAS Ctlgrs121909626
Max Magnitude0
OMIM135940
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909626(G;G)
Alt rs121909626(G;G)
Reference Rs121909626(C;C)
Significance Other
Disease Ichthyosis vulgaris Dermatitis
Variation info
Gene FLG
CLNDBN Ichthyosis vulgaris Dermatitis, atopic, 2, susceptibility to
Reversed 1
HGVS NC_000001.10:g.152279701G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017716.28, RCV000017717.3,


[PMID 17291859OA-icon.png] Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
In affected members of 2 unrelated Japanese families with ichthyosis vulgaris who were negative for previously identified null mutations in the FLG gene, heterozygosity for a 7661C-G transversion in exon 3 of the FLG gene was identified, resulting in a Ser2554-to-ter (S2554X) substitution, predicted to cause premature termination of profilaggrin translation in the filaggrin repeat domain 7. One indiviual who had a severe presentation of the disease, was found to be homozygous for S2554X. 143 Japanese patients with atopic dermatitis from 140 unrelated families were screened for this null mutation with S2554X identified in 6 patients. The mutation was not found in 156 unrelated nonatopic and nonichthyotic Japanese controls.