rs28928910

Orientation

minus

Stabilized

minus

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

Make rs28928910(C;T)

Make rs28928910(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

24956452

Gene

NEFL

is a	snp
is	mentioned by
dbSNP	rs28928910
dbSNP (classic)	rs28928910
ClinGen	rs28928910
ebi	rs28928910
HLI	rs28928910
Exac	rs28928910
Gnomad	rs28928910
Varsome	rs28928910
LitVar	rs28928910
Map	rs28928910
PheGenI	rs28928910
Biobank	rs28928910
1000 genomes	rs28928910
hgdp	rs28928910
ensembl	rs28928910
geneview	rs28928910
scholar	rs28928910
google	rs28928910
pharmgkb	rs28928910
gwascentral	rs28928910
openSNP	rs28928910
23andMe	rs28928910
SNPshot	rs28928910
SNPdbe	rs28928910
MSV3d	rs28928910
GWAS Ctlg	rs28928910

Max Magnitude

0

OMIM	162280
Desc	Charcot-Marie-Tooth disease, axonal, Type 2E
Variant	0002
Related	also

ClinVar
Risk	rs28928910(A;A) rs28928910(T;T)
Alt	rs28928910(A;A) rs28928910(T;T)
Reference	Rs28928910(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2E not provided Charcot-Marie-Tooth disease Decreased nerve conduction velocity Distal muscle weakness Hand muscle atrophy Peripheral demyelination Peripheral neuropathy Distal lower limb muscle weakness Pes cavus Charcot-Marie-Tooth disease
Variation	info
Gene	NEFL
CLNDBN	Charcot-Marie-Tooth disease type 2E not provided Charcot-Marie-Tooth disease, type 1C Decreased nerve conduction velocity Distal muscle weakness Hand muscle atrophy Peripheral demyelination Peripheral neuropathy Distal lower limb muscle weakness Pes cavus Charcot-Marie-Tooth disease, demyelinating, type 1f
Reversed	1
HGVS	NC_000008.10:g.24813966G>A; NC_000008.10:g.24813966G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015073.26, RCV000057144.1, RCV000194357.1, RCV000414916.1, RCV000415401.1, RCV000034138.2, RCV000057143.1,