chrX:77988543:AG> Detail (hg38) (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:77,244,039-77,244,040
hg38	chrX:77,988,543-77,988,544

HGVS

ATP7A
PGK1

Type	Transcript	Protein
RefSeq	NM_000052.6:c.422_423delAG	NP_000043.4:p.Glu141AlafsTer20
	NM_001282224.1:c.452_453delAG	NP_001269153.1:p.Glu151AlafsTer20
Ensemble	ENST00000341514.11:c.422_423delAG	ENST00000341514.11:p.Glu141AlafsTer20
	ENST00000343533.10:c.452_453delAG	ENST00000343533.10:p.Glu151AlafsTer20
	ENST00000685264.1:c.422_423delAG	ENST00000685264.1:p.Glu141AlafsTer20
	ENST00000686033.1:c.422_423delAG	ENST00000686033.1:p.Glu141AlafsTer20
	ENST00000686133.1:c.422_423delAG	ENST00000686133.1:p.Glu141AlafsTer20
	ENST00000686480.1:c.422_423delAG	ENST00000686480.1:p.Glu141AlafsTer20
	ENST00000686543.1:c.422_423delAG	ENST00000686543.1:p.Glu141AlafsTer20
	ENST00000686688.1:c.422_423delAG	ENST00000686688.1:p.Glu141AlafsTer20
	ENST00000687086.1:c.422_423delAG	ENST00000687086.1:p.Glu141AlafsTer20
	ENST00000687416.1:c.422_423delAG	ENST00000687416.1:p.Glu141AlafsTer20
	ENST00000687599.1:c.422_423delAG	ENST00000687599.1:p.Glu141AlafsTer20
	ENST00000687984.1:c.422_423delAG	ENST00000687984.1:p.Glu141AlafsTer20
	ENST00000688249.1:c.422_423delAG	ENST00000688249.1:p.Glu141AlafsTer20
	ENST00000688338.1:c.422_423delAG	ENST00000688338.1:p.Glu141AlafsTer20
	ENST00000689649.1:c.422_423delAG	ENST00000689649.1:p.Glu141AlafsTer20
	ENST00000689767.1:c.422_423delAG	ENST00000689767.1:p.Glu141AlafsTer20
	ENST00000689891.1:c.422_423delAG	ENST00000689891.1:p.Glu141AlafsTer20
	ENST00000691152.1:c.422_423delAG	ENST00000691152.1:p.Glu141AlafsTer20
	ENST00000692908.1:c.422_423delAG	ENST00000692908.1:p.Glu141AlafsTer20
	ENST00000693051.1:c.422_423delAG	ENST00000693051.1:p.Glu141AlafsTer20
	ENST00000693398.1:c.422_423delAG	ENST00000693398.1:p.Glu141AlafsTer20

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000644362.1:c.-20+77708_-20+77709delAG

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

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
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: rs797045397 dbSNP
Genome: hg38
Position: chrX:77,988,543-77,988,544
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

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