chr8:24814007:GG>CT Detail (hg19) (NEFL)

Information

Genome

Assembly Position
hg19 chr8:24,814,007-24,814,008
hg38 chr8:24,956,493-24,956,494 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006158.4:c.22_23delinsAG NP_006149.2:p.Pro8Arg
Ensemble ENST00000610854.2:c.22_23delinsAG ENST00000610854.2:p.Pro8Arg
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 2007-12-15 no assertion criteria provided Charcot-Marie-Tooth disease type 2E germline not provided Detail
Pathogenic 2007-12-15 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
0.481 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) NA CLINVAR Detail
0.480 Charcot-Marie-Tooth disease, demyelinating, Type 1F Further evidence that neurofilament light chain gene mutations can cause Charcot... UNIPROT 11220745 Detail
0.133 Charcot-Marie-Tooth disease NA CLINVAR Detail
0.481 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) We observed a novel NEFL missense mutation in a second CMT family, providing sup... UNIPROT 11220745 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) AND Charcot-Marie-Tooth disease type 2E ClinVar Detail
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) AND Charcot-Marie-Tooth disease type 1F ClinVar Detail
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease... DisGeNET Detail
NA DisGeNET Detail
We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence tha... 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
rs60261494 dbSNP
Genome
hg19
Position
chr8:24,814,007-24,814,008
Variant Type
snv
Reference Allele
GG
Alternative Allele
CT
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