chr13:51965034:C>G Detail (hg38) (ATP7B)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr13:52,539,170-52,539,170 View the variant detail on this assembly version.
hg38	chr13:51,965,034-51,965,034

HGVS

ATP7B

Type	Transcript	Protein
RefSeq	NM_000053.3:c.1708-1G>C
	NM_001243182.1:c.1375-1G>C
	NM_001330578.1:c.1708-1G>C
Ensemble	ENST00000242839.10:c.1708-1G>C
	ENST00000400366.6:c.1375-1G>C
	ENST00000400370.8:c.1285+8901G>C
	ENST00000418097.7:c.1708-1G>C
	ENST00000448424.7:c.1708-1G>C
	ENST00000634844.1:c.1708-1G>C
	ENST00000673772.1:c.1708-1G>C
	ENST00000674147.2:c.1708-1G>C
	ENST00000713659.1:c.1707+3410G>C
	ENST00000713660.1:c.1708-1G>C

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
Review star
Show details

Links

ATP7B

Type	Database	ID	Link
Gene	MIM	606882	OMIM
	HGNC	870	HGNC
	Ensembl	ENSG00000123191	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv383656537	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-16	criteria provided, multiple submitters, no conflicts	Wilson disease	germline unknown	Detail
Pathogenic	2023-08-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.819	Hepatolenticular Degeneration	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000053.4(ATP7B):c.1708-1G>C AND Wilson disease	ClinVar	Detail
NM_000053.4(ATP7B):c.1708-1G>C AND not provided	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs137853280 dbSNP
Genome: hg38
Position: chr13:51,965,034-51,965,034
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8624
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1595547309833024E-4
Chromosome Counts in All Race (ExAC): 120716
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.31356241094801E-5

Genome browser