chr8:24956223:T>C Detail (hg38) (NEFL)

Information

Genome

Assembly Position
hg19 chr8:24,813,737-24,813,737 View the variant detail on this assembly version.
hg38 chr8:24,956,223-24,956,223

HGVS

Type Transcript Protein
RefSeq NM_006158.4:c.293A>G NP_006149.2:p.Asn98Ser
Ensemble ENST00000610854.2:c.293A>G ENST00000610854.2:p.Asn98Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 2024-03-07 criteria provided, multiple submitters, no conflicts Charcot-Marie-Tooth disease type 1F de novo germline unknown Detail
Pathogenic 2023-03-20 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2023-10-07 criteria provided, single submitter Charcot-Marie-Tooth disease type 2E germline Detail
Pathogenic 2023-04-07 no assertion criteria provided Charcot-Marie-Tooth disease, dominant intermediate G germline Detail
Pathogenic 2023-08-14 criteria provided, multiple submitters, no conflicts Charcot-Marie-Tooth disease germline unknown Detail
Pathogenic 2019-05-15 criteria provided, single submitter Charcot-Marie-Tooth disease, dominant intermediate G,Charcot-Marie-Tooth disease type 1F,Charcot-Marie-Tooth disease type 2E de novo Detail
Pathogenic 2019-05-15 criteria provided, single submitter Charcot-Marie-Tooth disease, dominant intermediate G,Charcot-Marie-Tooth disease type 1F,Charcot-Marie-Tooth disease type 2E de novo Detail
Pathogenic 2019-05-15 criteria provided, single submitter Charcot-Marie-Tooth disease, dominant intermediate G,Charcot-Marie-Tooth disease type 1F,Charcot-Marie-Tooth disease type 2E de novo Detail
Likely pathogenic 2021-10-06 criteria provided, single submitter Developmental disorder,Sensorineural hearing loss disorder unknown Detail
Likely pathogenic 2021-10-06 criteria provided, single submitter Developmental disorder,Sensorineural hearing loss disorder unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Charcot-Marie-Tooth disease, demyelinating, Type 1F NA CLINVAR Detail
0.480 Charcot-Marie-Tooth disease, demyelinating, Type 1F Mutations in the neurofilament light chain gene (NEFL) cause early onset severe ... UNIPROT 12566280 Detail
0.133 Charcot-Marie-Tooth disease Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilamen... BeFree 25552649 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND Charcot-Marie-Tooth disease type 1F ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND not provided ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND Charcot-Marie-Tooth disease type 2E ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND Charcot-Marie-Tooth disease, dominant intermediate G ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND multiple conditions ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND multiple conditions ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND multiple conditions ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND multiple conditions ClinVar Detail
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth ... DisGeNET Detail
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalit... 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
rs58982919 dbSNP
Genome
hg38
Position
chr8:24,956,223-24,956,223
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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