chr19:40397766:G>A Detail (hg38) (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	chr19:40,903,673-40,903,673 View the variant detail on this assembly version.
hg38	chr19:40,397,766-40,397,766

HGVS

PRX

Type	Transcript	Protein
RefSeq	NM_020956.2:c.*791C>T
	NM_181882.2:c.586C>T	NP_870998.2:p.Arg196Ter
Ensemble	ENST00000291825.11:c.*791C>T
	ENST00000324001.8:c.586C>T	ENST00000324001.8:p.Arg196Ter
	ENST00000673881.1:c.169C>T	ENST00000673881.1:p.Arg57Ter
	ENST00000674005.2:c.871C>T	ENST00000674005.2:p.Arg291Ter
	ENST00000674773.1:c.169C>T	ENST00000674773.1:p.Arg57Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	2001-02-15	no assertion criteria provided	Charcot-Marie-Tooth disease type 4F	germline	Detail
Uncertain significance		no assertion criteria provided	Charcot-Marie-Tooth disease	germline	Detail
Pathogenic	2020-09-01	criteria provided, single submitter	Charcot-Marie-Tooth disease type 4	germline	Detail
Pathogenic	2020-03-20	criteria provided, single submitter	not provided	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
0.242	Dejerine-Sottas Disease (disorder)	NA	CLINVAR		Detail
0.009	Charcot-Marie-Tooth disease	After characterizing the human PRX gene, we identified a nonsense R196X mutation...	BeFree	11157804	Detail

Annotation

Annotations

Descrption	Source	Links
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) AND Charcot-Marie-Tooth disease type 4F	ClinVar	Detail
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) AND Charcot-Marie-Tooth disease	ClinVar	Detail
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) AND Charcot-Marie-Tooth disease type 4	ClinVar	Detail
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
After characterizing the human PRX gene, we identified a nonsense R196X mutation in the Lebanese fam...	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: rs104894706 dbSNP
Genome: hg38
Position: chr19:40,397,766-40,397,766
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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