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Variant : CV590904 (NM_058243.2(BRD4):c.1856G>T (p.Ser619Ile)) Homo sapiens

Symbol: CV590904
Name: NM_058243.2(BRD4):c.1856G>T (p.Ser619Ile)
Condition: Short stature [RCV000736205]
Clinical Significance: likely pathogenic
Last Evaluated: 11/18/2001
Review Status: no assertion criteria provided
Related Genes: BRD4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: case-control
HGVS Name(s): NM_001330384.2:c.1856G>T
NC_000019.10:g.15255488C>A
NC_000019.9:g.15366299C>A
NM_058243.2:c.1856G>T
NP_490597.1:p.Ser619Ile
NM_014299.2:c.1856G>T
NP_001317313.1:p.Ser619Ile
NP_055114.1:p.Ser619Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381915,255,488 - 15,255,488CLINVAR
GRCh371915,366,299 - 15,366,299CLINVAR
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: 14350151
Created: 2019-02-12
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.