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Variant : CV590361 (NM_014780.4(CUL7):c.3685C>T (p.Gln1229Ter)) Homo sapiens

Symbol: CV590361
Name: NM_014780.4(CUL7):c.3685C>T (p.Gln1229Ter)
Condition: Three M syndrome 1 [RCV000778114]
Clinical Significance: likely pathogenic
Last Evaluated: 10/10/2014
Review Status: no assertion criteria provided
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_014780.4:c.3685C>T
NC_000006.12:g.43041036G>A
NC_000006.11:g.43008774G>A
NP_055595.2:p.Gln1229Ter
NG_016205.1:g.17910C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,041,036 - 43,041,036CLINVAR
GRCh37643,008,774 - 43,008,774CLINVAR
Cytogenetic Map66p21.1CLINVAR
Trait Synonyms: 3M SYNDROME; GLOOMY FACE SYNDROME



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14691278
Created: 2019-06-11
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.