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Variant : CV428995 (NM_003383.5(VLDLR):c.64A>T (p.Ser22Cys)) Homo sapiens

Symbol: CV428995
Name: NM_003383.5(VLDLR):c.64A>T (p.Ser22Cys)
Condition: not specified [RCV000500733]
Clinical Significance: uncertain significance
Last Evaluated: 09/21/2016
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_003383.5:c.64A>T
NG_012741.1:g.5461A>T
NC_000009.12:g.2622253A>T
NC_000009.11:g.2622253A>T
NM_003383.3:c.64A>T
NP_003374.3:p.Ser22Cys
NP_001309155.1:p.Ser22Cys
NM_001018056.3:c.64A>T
NM_001322225.2:c.64A>T
NM_001322226.2:c.64A>T
NR_015375.2:n.121T>A
NP_001018066.1:p.Ser22Cys
NP_001309154.1:p.Ser22Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,253 - 2,622,253CLINVAR
GRCh3792,622,253 - 2,622,253CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13214110
Created: 2017-09-12
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.