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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

PRX

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
	ENST00000324001.8:c.246delC	ENST00000324001.8:p.Leu83CysfsTer14
	ENST00000673881.1:c.-172delC
	ENST00000674005.2:c.531delC	ENST00000674005.2:p.Leu178CysfsTer14
	ENST00000674773.1:c.-36-785delC

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

PRX

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

Descrption	Source	Links
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: -

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