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NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Nov 10, 2016
Accession:
VCV000371661.1
Variation ID:
371661
Description:
single nucleotide variant
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NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)

Allele ID
357426
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 137147602 (GRCh37) GRCh37 UCSC
6: 136826464 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137147602C>T
NC_000006.12:g.136826464C>T
NG_008462.1:g.8885C>T
NM_000288.4:c.334C>T MANE Select NP_000279.1:p.Gln112Ter nonsense
Protein change
Q112*
Other names
-
Canonical SPDI
NC_000006.12:136826463:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041012
dbSNP: rs62653604
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 Nov 10, 2016 RCV000411360.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PEX7 - - GRCh38
GRCh37
291 310

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 10, 2016)
criteria provided, single submitter
Method: clinical testing
Rhizomelic chondrodysplasia punctata type 1
Allele origin: unknown
Counsyl
Accession: SCV000487296.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Braverman N Human mutation 2002 PMID: 12325024

Text-mined citations for rs62653604...

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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 08, 2021