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Variant : CV111677 (NM_003128.2(SPTBN1):c.-48+4062G>A) Homo sapiens

Symbol: CV111677
Name: NM_003128.2(SPTBN1):c.-48+4062G>A
Condition: Lung cancer [RCV000092200]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SPTBN1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: literature only|not provided
HGVS Name(s): NM_003128.2:c.-48+4062G>A
NG_029817.1:g.9264G>A
NC_000002.12:g.54460580G>A
NC_000002.11:g.54687717G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38254,460,580 - 54,460,580CLINVAR
GRCh37254,687,717 - 54,687,717CLINVAR
Cytogenetic Map22p16.2CLINVAR
Trait Synonyms: Lung cancer, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8577303
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.