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NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 11, 2015)
Last evaluated:
Mar 2, 2014
Accession:
VCV000188711.1
Variation ID:
188711
Description:
single nucleotide variant
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NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)

Allele ID
186701
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 136845675 (GRCh38) GRCh38 UCSC
6: 137166813 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137166813G>A
NC_000006.12:g.136845675G>A
NG_008462.1:g.28096G>A
NM_000288.4:c.400G>A MANE Select NP_000279.1:p.Asp134Asn missense
Protein change
D134N
Other names
-
Canonical SPDI
NC_000006.12:136845674:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA273876
dbSNP: rs764346452
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 Mar 2, 2014 RCV000169000.1
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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
(Mar 02, 2014)
criteria provided, single submitter
Method: literature only
Rhizomelic chondrodysplasia punctata type 1
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220139.1
Submitted: (Mar 11, 2015)
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
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Motley AM American journal of human genetics 2002 PMID: 11781871

Text-mined citations for rs764346452...

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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