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NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 19, 2017)
Last evaluated:
Jun 18, 2017
Accession:
VCV000437459.2
Variation ID:
437459
Description:
single nucleotide variant
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NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu)

Allele ID
431024
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq21.1
Genomic location
X: 78031428 (GRCh38) GRCh38 UCSC
X: 77286926 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.77286926G>A
NC_000023.11:g.78031428G>A
NG_013224.2:g.125732G>A
... more HGVS
Protein change
G1047E, G969E
Other names
-
Canonical SPDI
NC_000023.11:78031427:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA413603485
dbSNP: rs1557237050
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 18, 2017 RCV000502988.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP7A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
718 877

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 18, 2017)
criteria provided, single submitter
Method: clinical testing
Menkes kinky-hair syndrome
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000588369.1
Submitted: (Jun 19, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1557237050...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021