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Variant : CV550737 (NM_024675.3(PALB2):c.778C>T (p.Gln260Ter)) Homo sapiens

Symbol: CV550737
Name: NM_024675.3(PALB2):c.778C>T (p.Gln260Ter)
Condition: Neuroendocrine tumor of pancreas [RCV000677896]
Clinical Significance: pathogenic
Last Evaluated: 04/23/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: PALB2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): LRG_308t1:c.778C>T
NM_024675.3:c.778C>T
LRG_308:g.10590C>T
NG_007406.1:g.10590C>T
NC_000016.10:g.23635768G>A
NC_000016.9:g.23647089G>A
LRG_308p1:p.Gln260Ter
NP_078951.2:p.Gln260Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381623,635,768 - 23,635,768CLINVAR
GRCh371623,647,089 - 23,647,089CLINVAR
Cytogenetic Map1616p12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13786452
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2020-08-04
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.