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NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 5, 2017)
Last evaluated:
Oct 11, 2016
Accession:
VCV000436287.1
Variation ID:
436287
Description:
single nucleotide variant
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NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)

Allele ID
428526
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 136869897 (GRCh38) GRCh38 UCSC
6: 137191035 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137191035T>C
NC_000006.12:g.136869897T>C
NG_008462.1:g.52318T>C
NM_000288.4:c.641T>C MANE Select NP_000279.1:p.Leu214Pro missense
Protein change
L214P
Other names
-
Canonical SPDI
NC_000006.12:136869896:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA365763942
dbSNP: rs1554333880
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 Oct 11, 2016 RCV000502761.1
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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
(Oct 11, 2016)
criteria provided, single submitter
Method: clinical testing
Rhizomelic chondrodysplasia punctata, type 1
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000596395.1
Submitted: (Jul 05, 2017)
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 rs1554333880...

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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