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Variant : CV307972 (NM_003383.5(VLDLR):c.-56_-54del) Homo sapiens

Symbol: CV307972
Name: NM_003383.5(VLDLR):c.-56_-54del
Condition: Cerebellar hypoplasia [RCV000373923]|Congenital cerebellar hypoplasia [RCV000373923]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: deletion (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_012741.1:g.5342_5344del
NC_000009.12:g.2622134_2622136del
NC_000009.11:g.2622134_2622136del
NR_015375.2:n.240_242del
NM_003383.3:c.-56_-54delCGT
NM_001018056.3:c.-56_-54del
NM_001322225.2:c.-56_-54del
NM_001322226.2:c.-56_-54del
NM_003383.5:c.-56_-54del
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,132 - 2,622,134CLINVAR
GRCh3792,622,132 - 2,622,134CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11661157
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.