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Variant : CV252369 (NM_014780.4(CUL7):c.2438A>G (p.Gln813Arg)) Homo sapiens

Symbol: CV252369
Name: NM_014780.4(CUL7):c.2438A>G (p.Gln813Arg)
Condition: Three M syndrome [RCV000407177]|not specified [RCV000245796]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_014780.4:c.2438A>G
NG_016205.1:g.12385A>G
NC_000006.12:g.43046561T>C
NC_000006.11:g.43014299T>C
NP_055595.2:p.Gln813Arg
Q14999:p.Gln813Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,046,561 - 43,046,561CLINVAR
GRCh37643,014,299 - 43,014,299CLINVAR
Cytogenetic Map66p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11545923
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-08-06
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.