chr19:40904662:G> Detail (hg19) (PRX)

Information

Genome

Assembly Position
hg19 chr19:40,904,662-40,904,662
hg38 chr19:40,398,755-40,398,755 

HGVS

Type Transcript Protein
RefSeq NM_020956.2:c.246delC NP_066007.1:p.Leu83CysfsTer14
NM_181882.2:c.246delC NP_870998.2:p.Leu83CysfsTer14
Ensemble ENST00000291825.11:c.246delC ENST00000291825.11:p.Leu83CysfsTer14
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 605725 OMIM
HGNC 13797 HGNC
Ensembl ENSG00000105227 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
not provided no assertion provided Charcot-Marie-Tooth disease type 4F germline Detail
Uncertain significance no assertion criteria provided Dejerine-Sottas disease germline Detail
Pathogenic 2002-06-01 no assertion criteria provided Autosomal recessive Dejerine-Sottas syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_181882.3(PRX):c.247del (p.Leu83fs) AND Charcot-Marie-Tooth disease type 4F ClinVar Detail
NM_181882.3(PRX):c.247del (p.Leu83fs) AND Dejerine-Sottas disease ClinVar Detail
NM_181882.3(PRX):c.247del (p.Leu83fs) AND Autosomal recessive Dejerine-Sottas syndrome 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
rs281865061 dbSNP
Genome
hg19
Position
chr19:40,904,662-40,904,662
Variant Type
snv
Reference Allele
G
Alternative Allele
-
Genome browser