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Variant : CV136159 (NM_003383.5(VLDLR):c.82+7G>A) Homo sapiens

Symbol: CV136159
Name: NM_003383.5(VLDLR):c.82+7G>A
Condition: AllHighlyPenetrant [RCV000118827]|Cerebellar hypoplasia [RCV000276346]|Congenital cerebellar hypoplasia [RCV000276346]|not provided [RCV000126305]|not specified [RCV000118827]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NG_012741.1:g.5486G>A
NC_000009.12:g.2622278G>A
NC_000009.11:g.2622278G>A
NM_003383.3:c.82+7G>A
NM_001018056.3:c.82+7G>A
NM_001322225.2:c.82+7G>A
NM_001322226.2:c.82+7G>A
NM_003383.5:c.82+7G>A
NR_015375.2:n.96C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,278 - 2,622,278CLINVAR
GRCh3792,622,278 - 2,622,278CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8661046
Created: 2014-06-10
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.