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NM_002228.3(JUN):c.658C>G (p.Pro220Ala)

Variation ID: Help
56164
Review status: Help
(0/4) no assertion provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_002228.3(JUN):c.658C>G (p.Pro220Ala)

Allele ID:
70803
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.1
Genomic location:
  • Chr1: 58782413 (on Assembly GRCh38)
  • Chr1: 59248085 (on Assembly GRCh37)
Protein change:
P220A
HGVS:
  • NG_047027.1:g.6701C>G
  • NM_002228.3:c.658C>G
  • NP_002219.1:p.Pro220Ala
  • NC_000001.11:g.58782413G>C (GRCh38)
  • NC_000001.10:g.59248085G>C (GRCh37)
Links:
dbSNP: 377289876
NCBI 1000 Genomes Browser:
rs377289876
Molecular consequence:
NM_002228.3:c.658C>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00008 (C)
  • ExAC 0.00032 (C)

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
not providedno assertion providedliterature onlyunknown
    Stoller Lab Children's Hospital of PhiladelphiaSCV000082635.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Stoller Lab Children's Hospital of Philadelphianot providednot providedunknownnot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Dec 26, 2017