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NM_000288.4(PEX7):c.817del (p.Ser273fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Nov 6, 2017
Accession:
VCV000554814.1
Variation ID:
554814
Description:
1bp deletion
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NM_000288.4(PEX7):c.817del (p.Ser273fs)

Allele ID
543623
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 136898152 (GRCh38) GRCh38 UCSC
6: 137219290 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137219293del
NC_000006.12:g.136898155del
NG_008462.1:g.80576del
NM_000288.4:c.817del MANE Select NP_000279.1:p.Ser273fs frameshift
Protein change
S273fs
Other names
-
Canonical SPDI
NC_000006.12:136898151:TTTT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554335926
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 6, 2017 RCV000670509.1
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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 06, 2017)
criteria provided, single submitter
Method: clinical testing
Rhizomelic chondrodysplasia punctata type 1
Allele origin: unknown
Counsyl
Accession: SCV000795368.1
Submitted: (Jul 10, 2018)
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
Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells. Mukai S The Journal of biological chemistry 2002 PMID: 11756410

Text-mined citations for rs1554335926...

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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