rs41370446

minus

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

Make rs41370446(-;-)

Make rs41370446(-;CAGT)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

152311629

Gene	FLG, FLG-AS1

is a	snp
is	mentioned by
dbSNP	rs41370446
dbSNP (classic)	rs41370446
ClinGen	rs41370446
ebi	rs41370446
HLI	rs41370446
Exac	rs41370446
Gnomad	rs41370446
Varsome	rs41370446
LitVar	rs41370446
Map	rs41370446
PheGenI	rs41370446
Biobank	rs41370446
1000 genomes	rs41370446
hgdp	rs41370446
ensembl	rs41370446
geneview	rs41370446
scholar	rs41370446
google	rs41370446
pharmgkb	rs41370446
gwascentral	rs41370446
openSNP	rs41370446
23andMe	rs41370446
SNPshot	rs41370446
SNPdbe	rs41370446
MSV3d	rs41370446
GWAS Ctlg	rs41370446

Max Magnitude

0

ClinVar
Risk	rs41370446(-;-)
Alt	rs41370446(-;-)
Reference	Rs41370446(CAGT;CAGT)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	FLG FLG-AS1
CLNDBN	not provided
Reversed	1
HGVS	NC_000001.10:g.152284105_152284108delACTG
CLNSRC
CLNACC	RCV000482142.1,

The c.3254_3257delCAGT variant in the FLG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3254_3257delCAGT variant causes a frameshift starting with codon Serine 1085, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Ser1085CysfsX36. This variant is predicted to cause loss of normal protein function through protein truncation. The c.3254_3257delCAGT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. [1]