chr8:24813612:C>A Detail (hg19) (NEFL)

Information

Genome

Assembly Position
hg19 chr8:24,813,612-24,813,612
hg38 chr8:24,956,098-24,956,098 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006158.4:c.418G>T NP_006149.2:p.Glu140Ter
Ensemble ENST00000610854.2:c.418G>T ENST00000610854.2:p.Glu140Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 162280 OMIM
HGNC 7739 HGNC
Ensembl ENSG00000277586 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-02-01 no assertion criteria provided Charcot-Marie-Tooth disease type 1F germline Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Charcot-Marie-Tooth disease, demyelinating, Type 1F NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) AND Charcot-Marie-Tooth disease type 1F ClinVar Detail
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913663 dbSNP
Genome
hg19
Position
chr8:24,813,612-24,813,612
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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