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Variant : CV171695 (NM_000720.4(CACNA1D):c.3543del (p.Glu1182fs)) Homo sapiens

Symbol: CV171695
Name: NM_000720.4(CACNA1D):c.3543del (p.Glu1182fs)
Condition: Malignant tumor of prostate [RCV000149005]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CACNA1D  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NM_000720.2:c.3539delA
NM_001128839.3:c.3483del
NM_001128840.3:c.3483del
NM_000720.4:c.3543del
NG_032999.1:g.259388del
NC_000003.12:g.53749436del
NC_000003.11:g.53783463del
NP_001122311.1:p.Glu1162fs
NP_001122312.1:p.Glu1162fs
NP_000711.1:p.Glu1182fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,749,432 - 53,749,432CLINVAR
GRCh37353,783,459 - 53,783,459CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: Prostate cancer; Prostatic cancer
Age Of Onset: adulthood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9686788
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-11-05
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.