chr19:40396207:A>T 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	chr19:40,902,114-40,902,114 View the variant detail on this assembly version.
hg38	chr19:40,396,207-40,396,207

HGVS

PRX

Type	Transcript	Protein
RefSeq	NM_020956.2:c.*2350T>A
	NM_181882.2:c.2145T>A	NP_870998.2:p.Cys715Ter
Ensemble	ENST00000291825.11:c.*2350T>A
	ENST00000324001.8:c.2145T>A	ENST00000324001.8:p.Cys715Ter
	ENST00000673881.1:c.1728T>A	ENST00000673881.1:p.Cys576Ter
	ENST00000674005.2:c.2430T>A	ENST00000674005.2:p.Cys810Ter
	ENST00000674773.1:c.1728T>A	ENST00000674773.1:p.Cys576Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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	tgv233502032	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-07-26	criteria provided, single submitter	Charcot-Marie-Tooth disease type 4F	germline unknown	Detail
Pathogenic	2023-01-21	criteria provided, single submitter	Charcot-Marie-Tooth disease type 4	germline	Detail
Pathogenic Likely pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic		criteria provided, single submitter	Charcot-Marie-Tooth disease	germline	Detail
Pathogenic	2019-09-23	criteria provided, single submitter	Inborn genetic diseases	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.2145T>A (p.Cys715Ter) AND Charcot-Marie-Tooth disease type 4F	ClinVar	Detail
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) AND Charcot-Marie-Tooth disease type 4	ClinVar	Detail
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) AND not provided	ClinVar	Detail
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) AND Charcot-Marie-Tooth disease	ClinVar	Detail
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) AND Inborn genetic diseases	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: rs104894707 dbSNP
Genome: hg38
Position: chr19:40,396,207-40,396,207
Variant Type: snv
Reference Allele: A
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8642
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120874
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6546155500769396E-5

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