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NM_006012.2(CLPP):c.624C>G (p.Ile208Met)

Variation ID: Help
545503
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 13, 2018
Number of submission(s):
1
Condition(s):
Perrault syndrome 3[Gene - MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_006012.2(CLPP):c.624C>G (p.Ile208Met)

Allele ID:
536008
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
  • Chr19: 6366326 (on Assembly GRCh38)
  • Chr19: 6366337 (on Assembly GRCh37)
Protein change:
I208M
HGVS:
  • NG_033887.1:g.9875C>G
  • NM_006012.2:c.624C>G
  • NP_006003.1:p.Ile208Met
  • NC_000019.10:g.6366326C>G (GRCh38)
  • NC_000019.9:g.6366337C>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs1555719766
Molecular consequence:
NM_006012.2:c.624C>G: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jun 13, 2018)
no assertion criteria providedliterature onlygermlineOMIMSCV000778468.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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