chrX:77253993:T> Detail (hg19) (ATP7A, PGK1)

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

Information

Genome

Assembly	Position
hg19	chrX:77,253,993-77,253,993
hg38	chrX:77,998,496-77,998,496

HGVS

ATP7A
PGK1

Type	Transcript	Protein
RefSeq	NM_000052.6:c.1355delT	NP_000043.4:p.Val452GlufsTer2
	NM_001282224.1:c.1385delT	NP_001269153.1:p.Val462GlufsTer2
Ensemble	ENST00000341514.11:c.1355delT	ENST00000341514.11:p.Val452GlufsTer2
	ENST00000343533.10:c.1385delT	ENST00000343533.10:p.Val462GlufsTer2
	ENST00000685264.1:c.1355delT	ENST00000685264.1:p.Val452GlufsTer2
	ENST00000686033.1:c.1355delT	ENST00000686033.1:p.Val452GlufsTer2
	ENST00000686133.1:c.1355delT	ENST00000686133.1:p.Val452GlufsTer2
	ENST00000686480.1:c.1355delT	ENST00000686480.1:p.Val452GlufsTer2
	ENST00000686543.1:c.1355delT	ENST00000686543.1:p.Val452GlufsTer2
	ENST00000686688.1:c.1355delT	ENST00000686688.1:p.Val452GlufsTer2
	ENST00000687086.1:c.1355delT	ENST00000687086.1:p.Val452GlufsTer2
	ENST00000687416.1:c.1355delT	ENST00000687416.1:p.Val452GlufsTer2
	ENST00000688249.1:c.1355delT	ENST00000688249.1:p.Val452GlufsTer2
	ENST00000688338.1:c.1355delT	ENST00000688338.1:p.Val452GlufsTer2
	ENST00000689649.1:c.1355delT	ENST00000689649.1:p.Val452GlufsTer2
	ENST00000689767.1:c.1355delT	ENST00000689767.1:p.Val452GlufsTer2
	ENST00000692908.1:c.1355delT	ENST00000692908.1:p.Val452GlufsTer2
	ENST00000693051.1:c.1355delT	ENST00000693051.1:p.Val452GlufsTer2
	ENST00000693398.1:c.1355delT	ENST00000693398.1:p.Val452GlufsTer2

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000644362.1:c.-20+87661delT

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

ATP7A
PGK1

Type	Database	ID	Link
Gene	MIM	300011	OMIM
	HGNC	869	HGNC
	Ensembl	ENSG00000165240	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	311800	OMIM
	HGNC	8896	HGNC
	Ensembl	ENSG00000102144	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-02-08	criteria provided, single submitter	Menkes kinky-hair syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.606	Menkes Kinky Hair Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000052.7(ATP7A):c.1355del (p.Val452fs) AND Menkes kinky-hair syndrome	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: rs797045329 dbSNP
Genome: hg19
Position: chrX:77,253,993-77,253,993
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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