chr19:40901051:G>A 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	chr19:40,901,051-40,901,051
hg38	chr19:40,395,144-40,395,144 View the variant detail on this assembly version.

HGVS

PRX

Type	Transcript	Protein
RefSeq	NM_020956.2:c.*3413C>T
	NM_181882.2:c.3208C>T	NP_870998.2:p.Arg1070Ter
Ensemble	ENST00000291825.11:c.*3413C>T
	ENST00000324001.8:c.3208C>T	ENST00000324001.8:p.Arg1070Ter
	ENST00000673881.1:c.2791C>T	ENST00000673881.1:p.Arg931Ter
	ENST00000674005.2:c.3493C>T	ENST00000674005.2:p.Arg1165Ter
	ENST00000674773.1:c.2791C>T	ENST00000674773.1:p.Arg931Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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
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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	tgv62093626	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2022-01-03	criteria provided, multiple submitters, no conflicts	Dejerine-Sottas disease	germline inherited	Detail
Pathogenic	2020-12-01	criteria provided, single submitter	Charcot-Marie-Tooth disease type 4F	germline unknown	Detail
Pathogenic	2023-05-25	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
0.242	Dejerine-Sottas Disease (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) AND Dejerine-Sottas disease	ClinVar	Detail
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) AND Charcot-Marie-Tooth disease type 4F	ClinVar	Detail
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) AND Charcot-Marie-Tooth disease type 4	ClinVar	Detail
NA	DisGeNET	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: rs104894708 dbSNP
Genome: hg19
Position: chr19:40,901,051-40,901,051
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8646
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): 121268
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.246198502490351E-6

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