chr19:34378959:C>T Detail (hg38) (GPI)

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

Genome

Assembly	Position
hg19	chr19:34,869,864-34,869,864 View the variant detail on this assembly version.
hg38	chr19:34,378,959-34,378,959

HGVS

GPI

Type	Transcript	Protein
RefSeq	NM_000175.3:c.659C>T	NP_000166.2:p.Thr220Met
	NM_001289790.1:c.659C>T	NP_001276719.1:p.Thr220Met
	NM_001184722.1:c.776C>T	NP_001171651.1:p.Thr259Met
	NM_001289789.1:c.692C>T	NP_001276718.1:p.Thr231Met
Ensemble	ENST00000356487.11:c.659C>T	ENST00000356487.11:p.Thr220Met
	ENST00000415930.8:c.776C>T	ENST00000415930.8:p.Thr259Met
	ENST00000588991.7:c.692C>T	ENST00000588991.7:p.Thr231Met

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
Review star	[No Data.]
Show details

Links

GPI

Type	Database	ID	Link
Gene	MIM	172400	OMIM
	HGNC	4458	HGNC
	Ensembl	ENSG00000105220	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Creutzfeldt-Jakob Disease, Familial	Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in t...	BeFree	18325785	Detail
0.012	Creutzfeldt-Jakob Disease, Familial	Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in t...	BeFree	18325785	Detail
0.859	Creutzfeldt-Jakob disease	Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in t...	BeFree	18325785	Detail

Annotation

Annotations

Descrption	Source	Links
Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphati...	DisGeNET	Detail
Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphati...	DisGeNET	Detail
Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphati...	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: -
Genome: hg38
Position: chr19:34,378,959-34,378,959
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
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): 121304
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): 1.648750247312537E-5

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