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Variant : CV207706 (NM_003383.5(VLDLR):c.75C>T (p.Thr25=)) Homo sapiens

Symbol: CV207706
Name: NM_003383.5(VLDLR):c.75C>T (p.Thr25=)
Condition: not provided [RCV000904884]|not specified [RCV000194158]
Clinical Significance: benign|likely benign
Last Evaluated: 03/29/2018
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_012741.1:g.5472C>T
NC_000009.12:g.2622264C>T
NC_000009.11:g.2622264C>T
NP_003374.3:p.Thr25=
NM_003383.3:c.75C>T
NP_001309154.1:p.Thr25=
NM_001018056.3:c.75C>T
NM_001322225.2:c.75C>T
NM_001322226.2:c.75C>T
NM_003383.5:c.75C>T
NR_015375.2:n.110G>A
NP_001018066.1:p.Thr25=
NP_001309155.1:p.Thr25=
NM_003383.4:c.75C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,264 - 2,622,264CLINVAR
GRCh3792,622,264 - 2,622,264CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10404604
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.