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Variant : CV619916 (NM_001037954.4(DIXDC1):c.793C>T (p.Arg265Ter)) Homo sapiens

Symbol: CV619916
Name: NM_001037954.4(DIXDC1):c.793C>T (p.Arg265Ter)
Condition: Obesity [RCV000787972]
Clinical Significance: likely pathogenic
Last Evaluated: 12/01/2018
Review Status: no assertion criteria provided
Related Genes: DIXDC1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: research
HGVS Name(s): NP_001033043.1:p.Arg265Ter
NM_033425.4:c.160C>T
NG_033127.1:g.60220C>T
NC_000011.10:g.111982362C>T
NC_000011.9:g.111853087C>T
NP_219493.1:p.Arg54Ter
NM_001037954.4:c.793C>T
NG_033127.2:g.60219C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3811111,982,362 - 111,982,362CLINVAR
GRCh3711111,853,087 - 111,853,087CLINVAR
Cytogenetic Map1111q23.1CLINVAR
Trait Synonyms: OBESITY, SUSCEPTIBILITY TO



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14698920
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-10-08
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.