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Variant : CV307964 (NM_003383.5(VLDLR):c.-335C>T) Homo sapiens

Symbol: CV307964
Name: NM_003383.5(VLDLR):c.-335C>T
Condition: Cerebellar hypoplasia [RCV000271545]|Congenital cerebellar hypoplasia [RCV000271545]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_012741.1:g.5063C>T
NC_000009.12:g.2621855C>T
NC_000009.11:g.2621855C>T
NM_003383.3:c.-335C>T
NM_001018056.3:c.-335C>T
NM_001322225.2:c.-335C>T
NM_001322226.2:c.-335C>T
NM_003383.5:c.-335C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,621,855 - 2,621,855CLINVAR
GRCh3792,621,855 - 2,621,855CLINVAR
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: 11600150
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-03-31
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.