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Variant : CV116128 (NM_004562.2(PARK2):c.1083+12810A>G) Homo sapiens

Symbol: CV116128
Name: NM_004562.2(PARK2):c.1083+12810A>G
Condition: Lung cancer [RCV000096651]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PRKN  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: literature only|not provided
HGVS Name(s): NM_004562.2:c.1083+12810A>G
NG_008289.1:g.1196759A>G
NC_000006.12:g.161536044T>C
NC_000006.11:g.161957076T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh386161,536,044 - 161,536,044CLINVAR
GRCh376161,957,076 - 161,957,076CLINVAR
Cytogenetic Map66q26CLINVAR
Trait Synonyms: Lung cancer, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8581683
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.