chr19:40396064:A> Detail (hg38) (PRX)

Information

Genome

Assembly Position
hg19 chr19:40,901,971-40,901,971 
hg38 chr19:40,396,064-40,396,064

HGVS

Type Transcript Protein
RefSeq NM_020956.2:c.*2493delT
NM_181882.2:c.2288delT NP_870998.2:p.Asp765ThrfsTer10
Ensemble ENST00000291825.11:c.*2493delT
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 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
Pathogenic 2001-02-01 no assertion criteria provided Autosomal recessive Dejerine-Sottas syndrome germline Detail
Likely pathogenic 2014-08-06 criteria provided, single submitter Charcot-Marie-Tooth disease type 4F germline Detail
Pathogenic 2022-06-23 criteria provided, single submitter Charcot-Marie-Tooth disease type 4 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.2289del (p.Asp765fs) AND Autosomal recessive Dejerine-Sottas syndrome ClinVar Detail
NM_181882.3(PRX):c.2289del (p.Asp765fs) AND Charcot-Marie-Tooth disease type 4F ClinVar Detail
NM_181882.3(PRX):c.2289del (p.Asp765fs) AND Charcot-Marie-Tooth disease type 4 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
rs797045102 dbSNP
Genome
hg38
Position
chr19:40,396,064-40,396,064
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Genome browser