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Variant : CV205240 (NM_002662.5(PLD1):c.2531A>G (p.His844Arg)) Homo sapiens

Symbol: CV205240
Name: NM_002662.5(PLD1):c.2531A>G (p.His844Arg)
Condition: Inborn genetic diseases [RCV000190783]
Clinical Significance: likely pathogenic
Last Evaluated: 01/31/2014
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: PLD1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_029851.1:g.170573A>G
NC_000003.12:g.171644922T>C
NC_000003.11:g.171362712T>C
NP_002653.1:p.His844Arg
NM_001130081.3:c.2417A>G
NM_002662.5:c.2531A>G
NM_002662.4:c.2531A>G
NP_001123553.1:p.His806Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh383171,644,922 - 171,644,922CLINVAR
GRCh373171,362,712 - 171,362,712CLINVAR
Cytogenetic Map33q26.31CLINVAR



Disease Annotations
References - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10401573
Created: 2015-10-06
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.