chr19:50858216:C>T Detail (hg38) (KLK3)

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

Genome

Assembly	Position
hg19	chr19:51,361,472-51,361,472 View the variant detail on this assembly version.
hg38	chr19:50,858,216-50,858,216

HGVS

KLK3

Type	Transcript	Protein
RefSeq	NM_001030048.1:c.394C>T	NP_001025219.1:p.Leu132Phe
	NM_001648.2:c.394C>T	NP_001639.1:p.Leu132Phe
	NM_001030047.1:c.394C>T	NP_001025218.1:p.Leu132Phe
Ensemble	ENST00000326003.7:c.394C>T	ENST00000326003.7:p.Leu132Phe
	ENST00000360617.7:c.394C>T	ENST00000360617.7:p.Leu132Phe
	ENST00000593997.5:c.394C>T	ENST00000593997.5:p.Leu132Phe
	ENST00000595952.5:c.265C>T	ENST00000595952.5:p.Leu89Phe
	ENST00000597483.5:c.265C>T	ENST00000597483.5:p.Leu89Phe

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

KLK3

Type	Database	ID	Link
Gene	MIM	176820	OMIM
	HGNC	6364	HGNC
	Ensembl	ENSG00000142515	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
0.021	Neoplasm Metastasis	There was an association with SRD5A2 V89L LL genotype and metastases at the time...	BeFree	12042668	Detail

Annotation

Annotations

Descrption	Source	Links
There was an association with SRD5A2 V89L LL genotype and metastases at the time of diagnosis, OR 5....	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: chr19:50,858,216-50,858,216
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8644
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): 121252
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): 8.247286642694553E-6

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