chrX:78011239:C>T Detail (hg38) (ATP7A, PGK1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:77,266,736-77,266,736 View the variant detail on this assembly version.
hg38	chrX:78,011,239-78,011,239

HGVS

ATP7A
PGK1

Type	Transcript	Protein
RefSeq	NM_000052.6:c.1933C>T	NP_000043.4:p.Arg645Ter
	NM_001282224.1:c.1963C>T	NP_001269153.1:p.Arg655Ter
Ensemble	ENST00000341514.11:c.1933C>T	ENST00000341514.11:p.Arg645Ter
	ENST00000343533.10:c.1963C>T	ENST00000343533.10:p.Arg655Ter
	ENST00000685264.1:c.1933C>T	ENST00000685264.1:p.Arg645Ter
	ENST00000686033.1:c.1933C>T	ENST00000686033.1:p.Arg645Ter
	ENST00000686133.1:c.1933C>T	ENST00000686133.1:p.Arg645Ter
	ENST00000686480.1:c.1933C>T	ENST00000686480.1:p.Arg645Ter
	ENST00000686543.1:c.1933C>T	ENST00000686543.1:p.Arg645Ter
	ENST00000686688.1:c.1933C>T	ENST00000686688.1:p.Arg645Ter
	ENST00000687086.1:c.1933C>T	ENST00000687086.1:p.Arg645Ter
	ENST00000689649.1:c.1933C>T	ENST00000689649.1:p.Arg645Ter
	ENST00000689767.1:c.2026C>T	ENST00000689767.1:p.Arg676Ter
	ENST00000692908.1:c.1933C>T	ENST00000692908.1:p.Arg645Ter
	ENST00000693398.1:c.1933C>T	ENST00000693398.1:p.Arg645Ter

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000644362.1:c.-19-98628C>T

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-04-03	criteria provided, multiple submitters, no conflicts	Menkes kinky-hair syndrome	germline	Detail
Pathogenic	2017-08-16	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	Menkes kinky-hair syndrome,Cutis laxa, X-linked,X-linked distal spinal muscular atrophy type 3	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	Menkes kinky-hair syndrome,Cutis laxa, X-linked,X-linked distal spinal muscular atrophy type 3	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	Menkes kinky-hair syndrome,Cutis laxa, X-linked,X-linked distal spinal muscular atrophy type 3	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.1933C>T (p.Arg645Ter) AND Menkes kinky-hair syndrome	ClinVar	Detail
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) AND not provided	ClinVar	Detail
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) AND multiple conditions	ClinVar	Detail
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) AND multiple conditions	ClinVar	Detail
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) AND multiple conditions	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: rs72554640 dbSNP
Genome: hg38
Position: chrX:78,011,239-78,011,239
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser