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Variant : CV512396 (NM_058243.2(BRD4):c.1550A>C (p.Gln517Pro)) Homo sapiens

Symbol: CV512396
Name: NM_058243.2(BRD4):c.1550A>C (p.Gln517Pro)
Condition: Inborn genetic diseases [RCV000624732]
Clinical Significance: likely pathogenic
Last Evaluated: 01/30/2015
Review Status: criteria provided, single submitter
Related Genes: BRD4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_014299.2:c.1550A>C
NP_001317313.1:p.Gln517Pro
NM_058243.2:c.1550A>C
NC_000019.9:g.15367776T>G
NC_000019.10:g.15256965T>G
NP_490597.1:p.Gln517Pro
NM_001330384.2:c.1550A>C
NP_055114.1:p.Gln517Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381915,256,965 - 15,256,965CLINVAR
GRCh371915,367,776 - 15,367,776CLINVAR
Cytogenetic Map1919p13.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13532961
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-08-04
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.