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rs28939370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28939370(C;C)
Make rs28939370(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position91887253
GeneFBLN5
is asnp
is mentioned by
dbSNPrs28939370
ebirs28939370
HLIrs28939370
Exacrs28939370
Varsomers28939370
Maprs28939370
PheGenIrs28939370
hapmaprs28939370
1000 genomesrs28939370
hgdprs28939370
ensemblrs28939370
gopubmedrs28939370
geneviewrs28939370
scholarrs28939370
googlers28939370
pharmgkbrs28939370
gwascentralrs28939370
openSNPrs28939370
23andMers28939370
23andMe allrs28939370
SNP Nexus

SNPshotrs28939370
SNPdbers28939370
MSV3drs28939370
GWAS Ctlgrs28939370
Max Magnitude0
OMIM604580
DescCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
Variant0001
Relatedalso
ClinVar
Risk rs28939370(C;C)
Alt rs28939370(C;C)
Reference rs28939370(T;T)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type IA
Variation info
Gene FBLN5
CLNDBN Autosomal recessive cutis laxa type IA
Reversed 1
HGVS NC_000014.8:g.92353597A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005809.2,


[PMID 12189163] Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.