rs28939370

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs28939370(C;C)

Make rs28939370(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

91887253

Gene

FBLN5

is a	snp
is	mentioned by
dbSNP	rs28939370
dbSNP (classic)	rs28939370
ClinGen	rs28939370
ebi	rs28939370
HLI	rs28939370
Exac	rs28939370
Gnomad	rs28939370
Varsome	rs28939370
LitVar	rs28939370
Map	rs28939370
PheGenI	rs28939370
Biobank	rs28939370
1000 genomes	rs28939370
hgdp	rs28939370
ensembl	rs28939370
geneview	rs28939370
scholar	rs28939370
google	rs28939370
pharmgkb	rs28939370
gwascentral	rs28939370
openSNP	rs28939370
23andMe	rs28939370
SNPshot	rs28939370
SNPdbe	rs28939370
MSV3d	rs28939370
GWAS Ctlg	rs28939370

Max Magnitude

0

OMIM	604580
Desc	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000005809.2,

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