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NM_000288.4(PEX7):c.735dup (p.Arg246Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 27, 2019)
Accession:
VCV000813367.1
Variation ID:
813367
Description:
1bp duplication
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NM_000288.4(PEX7):c.735dup (p.Arg246Ter)

Allele ID
801614
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 136869989-136869990 (GRCh38) GRCh38 UCSC
6: 137191127-137191128 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137191129dup
NC_000006.12:g.136869991dup
NG_008462.1:g.52412dup
NM_000288.4:c.735dup MANE Select NP_000279.1:p.Arg246Ter nonsense
Protein change
R246*
Other names
-
Canonical SPDI
NC_000006.12:136869989:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1582760004
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 - RCV001004181.1
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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
(-)
criteria provided, single submitter
Method: clinical testing
Rhizomelic chondrodysplasia punctata type 1
Allele origin: germline
Baylor Genetics
Accession: SCV001163002.1
Submitted: (Sep 27, 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 rs1582760004...

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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