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Variant : CV213176 (NM_024675.3(PALB2):c.1337A>T (p.Asp446Val)) Homo sapiens

Symbol: CV213176
Name: NM_024675.3(PALB2):c.1337A>T (p.Asp446Val)
Condition: Familial cancer of breast [RCV000200861]|Hereditary cancer-predisposing syndrome [RCV000562823]|Retinoblastoma [RCV000761148]|not provided [RCV000255070]|not specified [RCV001194137]
Clinical Significance: uncertain significance
Last Evaluated: 01/31/2020
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: PALB2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_024675.3:c.1337A>T
LRG_308t1:c.1337A>T
LRG_308:g.11149A>T
NG_007406.1:g.11149A>T
NC_000016.10:g.23635209T>A
NC_000016.9:g.23646530T>A
LRG_308p1:p.Asp446Val
NP_078951.2:p.Asp446Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381623,635,209 - 23,635,209CLINVAR
GRCh371623,646,530 - 23,646,530CLINVAR
Cytogenetic Map1616p12.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Breast cancer, familial; Cancer predisposition; CHEK2-Related Breast Cancer; Eye cancer, retinoblastoma; Neoplastic Syndromes, Hereditary; Retina tumor; Retinal cancer; Retinal tumor; RETINOBLASTOMA, SOMATIC; Tumor predisposition



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10407735
Created: 2015-11-10
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.