chrX:77298823:TCT> 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:77,298,823-77,298,825
hg38	chrX:78,043,325-78,043,327

HGVS

ATP7A
PGK1

Type	Transcript	Protein
RefSeq	NM_001282224.1:c.4044_4046delTCT	NP_001269153.1:p.Leu1349del
	NM_000052.6:c.4014_4016delTCT	NP_000043.4:p.Leu1339del
Ensemble	ENST00000343533.10:c.4044_4046delTCT	ENST00000343533.10:p.Leu1349del
	ENST00000341514.11:c.4014_4016delTCT	ENST00000341514.11:p.Leu1339del
	ENST00000685264.1:c.4014_4016delTCT	ENST00000685264.1:p.Leu1339del
	ENST00000686033.1:c.3819_3821delTCT	ENST00000686033.1:p.Leu1274del
	ENST00000686133.1:c.4014_4016delTCT	ENST00000686133.1:p.Leu1339del
	ENST00000686543.1:c.3780_3782delTCT	ENST00000686543.1:p.Leu1261del
	ENST00000687086.1:c.4014_4016delTCT	ENST00000687086.1:p.Leu1339del
	ENST00000689767.1:c.4107_4109delTCT	ENST00000689767.1:p.Leu1370del
	ENST00000692908.1:c.3780_3782delTCT	ENST00000692908.1:p.Leu1261del

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000644362.1:c.-19-66541_-19-66539delTCT

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

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: rs797045392 dbSNP
Genome: hg19
Position: chrX:77,298,823-77,298,825
Variant Type: snv
Reference Allele: TCT
Alternative Allele: -

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