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Variant : CV207705 (NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)) Homo sapiens

Symbol: CV207705
Name: NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)
Condition: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 [RCV000193524]
Clinical Significance: likely pathogenic
Last Evaluated: 04/05/2015
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_012741.1:g.5399T>C
NC_000009.12:g.2622191T>C
NC_000009.11:g.2622191T>C
NP_003374.3:p.Met1Thr
NM_003383.3:c.2T>C
NM_001018056.3:c.2T>C
NM_001322225.2:c.2T>C
NM_001322226.2:c.2T>C
NM_003383.5:c.2T>C
NR_015375.2:n.183A>G
NP_001018066.1:p.Met1Thr
NP_001309154.1:p.Met1Thr
NP_001309155.1:p.Met1Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,191 - 2,622,191CLINVAR
GRCh3792,622,191 - 2,622,191CLINVAR
Cytogenetic Map99p24.2CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10406638
Created: 2015-11-10
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.