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Variant : CV195373 (NM_014780.4(CUL7):c.1542G>T (p.Gln514His)) Homo sapiens

Symbol: CV195373
Name: NM_014780.4(CUL7):c.1542G>T (p.Gln514His)
Condition: Three M syndrome [RCV000332233]|not specified [RCV000179483]
Clinical Significance: benign|uncertain significance
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.1542G>T
NG_016205.1:g.8956G>T
NC_000006.12:g.43049990C>A
NC_000006.11:g.43017728C>A
NP_055595.2:p.Gln514His
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,049,990 - 43,049,990CLINVAR
GRCh37643,017,728 - 43,017,728CLINVAR
Cytogenetic Map66p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10049001
Created: 2015-07-14
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.