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Variant : CV171337 (NM_020981.3(B3GALT1):c.543del (p.Phe181fs)) Homo sapiens

Symbol: CV171337
Name: NM_020981.3(B3GALT1):c.543del (p.Phe181fs)
Condition: Malignant tumor of prostate [RCV000149278]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: B3GALT1   B3GALT1-AS1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NM_020981.3:c.543del
NG_050644.1:g.581522del
NC_000002.12:g.167869582del
NC_000002.11:g.168726092del
NP_066191.1:p.Phe181fs
NM_020981.3:c.539delT
Position
Human AssemblyChrPosition (strand)Source
GRCh382167,869,578 - 167,869,578CLINVAR
GRCh372168,726,088 - 168,726,088CLINVAR
Cytogenetic Map22q24.3CLINVAR
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
 
CRRD Object Information
CRRD ID: 9687059
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2020-10-15
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.