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NM_000288.4(PEX7):c.538_539del (p.Leu180fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 27, 2019)
Accession:
VCV000813365.1
Variation ID:
813365
Description:
2bp microsatellite
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NM_000288.4(PEX7):c.538_539del (p.Leu180fs)

Allele ID
801612
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
6q23.3
Genomic location
6: 136866636-136866637 (GRCh38) GRCh38 UCSC
6: 137187774-137187775 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137187774CT[1]
NC_000006.12:g.136866636CT[1]
NG_008462.1:g.49057CT[1]
NM_000288.4:c.538_539del MANE Select NP_000279.1:p.Leu180fs frameshift
Protein change
L180fs
Other names
-
Canonical SPDI
NC_000006.12:136866635:CTCT:CT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1582757650
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 - RCV001004179.1
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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: SCV001162997.1
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 rs1582757650...

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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