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NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 10, 2019)
Last evaluated:
Nov 18, 2001
Accession:
VCV000599480.1
Variation ID:
599480
Description:
single nucleotide variant
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NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp)

Allele ID
590853
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 8612120 (GRCh38) GRCh38 UCSC
4: 8613847 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.8613847G>T
NC_000004.12:g.8612120G>T
NM_001014447.3:c.1321G>T MANE Select NP_001014447.2:p.Gly441Trp missense
... more HGVS
Protein change
G430W, G441W, G304W
Other names
-
Canonical SPDI
NC_000004.12:8612119:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
Links
dbSNP: rs775707132
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 no assertion criteria provided Nov 18, 2001 RCV000736117.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CPZ - - GRCh38
GRCh37
14 85

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 18, 2001)
no assertion criteria provided
Method: case-control
Short stature
Allele origin: germline
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV000864414.1
Submitted: (Jan 10, 2019)
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 rs775707132...

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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