chrX:77289148:G> Detail (hg19) (ATP7A, PGK1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:77,289,148-77,289,148
hg38	chrX:78,033,650-78,033,650

HGVS

ATP7A
PGK1

Type	Transcript	Protein
RefSeq	NM_000052.6:c.3340delG	NP_000043.4:p.Val1114CysfsTer24
	NM_001282224.1:c.3370delG	NP_001269153.1:p.Val1124CysfsTer24
Ensemble	ENST00000341514.11:c.3340delG	ENST00000341514.11:p.Val1114CysfsTer24
	ENST00000343533.10:c.3370delG	ENST00000343533.10:p.Val1124CysfsTer24
	ENST00000685264.1:c.3340delG	ENST00000685264.1:p.Val1114CysfsTer24
	ENST00000686033.1:c.3145delG	ENST00000686033.1:p.Val1049CysfsTer24
	ENST00000686133.1:c.3340delG	ENST00000686133.1:p.Val1114CysfsTer24
	ENST00000686543.1:c.3106delG	ENST00000686543.1:p.Val1036CysfsTer24
	ENST00000687086.1:c.3340delG	ENST00000687086.1:p.Val1114CysfsTer24
	ENST00000689767.1:c.3433delG	ENST00000689767.1:p.Val1145CysfsTer24
	ENST00000692908.1:c.3106delG	ENST00000692908.1:p.Val1036CysfsTer24

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000644362.1:c.-19-76216delG

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.3340del (p.Val1114fs) 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: rs797045375 dbSNP
Genome: hg19
Position: chrX:77,289,148-77,289,148
Variant Type: snv
Reference Allele: G
Alternative Allele: -

Genome browser