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Variant : CV789799 (NM_014299.2(BRD4):c.231_233del (p.His77del)) Homo sapiens

Symbol: CV789799
Name: NM_014299.2(BRD4):c.231_233del (p.His77del)
Condition: Short stature [RCV000986204]
Clinical Significance: likely pathogenic
Last Evaluated: 05/28/2019
Review Status: criteria provided, single submitter
Related Genes: BRD4  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: clinical testing
HGVS Name(s): NP_055114.1:p.His77del
NP_490597.1:p.His77del
NM_001330384.2:c.231_233del
NM_014299.2:c.231_233del
NC_000019.9:g.15383678_15383680delTGG
NC_000019.9:g.15383680_15383682del
NP_001317313.1:p.His77del
NM_058243.2:c.231_233del
NC_000019.10:g.15272869_15272871del
Position
Human AssemblyChrPosition (strand)Source
GRCh381915,272,867 - 15,272,869CLINVAR
GRCh371915,383,678 - 15,383,680CLINVAR
Cytogenetic Map1919p13.12CLINVAR
Trait Synonyms: Decreased body height; Height less than 3rd percentile; Small stature; Stature below 3rd percentile



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 21070260
Created: 2020-02-11
Species: Homo sapiens
Last Modified: 2020-07-28
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.