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Variant : CV274730 (NM_003383.5(VLDLR):c.-42_-40GGC[5]) Homo sapiens

Symbol: CV274730
Name: NM_003383.5(VLDLR):c.-42_-40GGC[5]
Condition: Cerebellar hypoplasia [RCV000308352]|Congenital cerebellar hypoplasia [RCV000308352]|not specified [RCV000356956]
Clinical Significance: benign|conflicting interpretations of pathogenicity
Last Evaluated: 03/18/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: microsatellite (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_003383.3:c.-27_-19delGGCGGCGGC
NM_001322225.2:c.-42_-40GGC[5]
NM_001322226.2:c.-42_-40GGC[5]
NM_003383.5:c.-42_-40GGC[5]
NG_012741.1:g.5356_5358GGC[5]
NC_000009.12:g.2622148_2622150GGC[5]
NC_000009.11:g.2622148_2622150GGC[5]
NR_015375.2:n.204_206CCG[5]
NM_001018056.3:c.-42_-40GGC[5]
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,147 - 2,622,155CLINVAR
GRCh3792,622,147 - 2,622,155CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11633066
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.