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NM_003630.3(PEX3):c.-175G>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000355571.1
Variation ID:
355571
Description:
single nucleotide variant
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NM_003630.3(PEX3):c.-175G>C

Allele ID
299214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q24.2
Genomic location
6: 143450868 (GRCh38) GRCh38 UCSC
6: 143772005 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.143772005G>C
NC_000006.12:g.143450868G>C
NM_003630.3:c.-175G>C 5 prime UTR
NG_008459.1:g.5088G>C
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 0.00020
Links
ClinGen: CA10621531
dbSNP: rs545482337
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000345766.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PEX3 - - GRCh38
GRCh37
74 86

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Zellweger Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000460597.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 14, 2020