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Variant : CV711492 (NM_001100916.2(MBOAT4):c.858C>T (p.Pro286=)) Homo sapiens

Symbol: CV711492
Name: NM_001100916.2(MBOAT4):c.858C>T (p.Pro286=)
Condition: not provided [RCV000965771]
Clinical Significance: benign
Last Evaluated: 02/08/2018
Review Status: criteria provided, single submitter
Related Genes: LEPROTL1   MBOAT4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001128208.2:c.280-4879G>A
NM_001100916.2:c.858C>T
NC_000008.11:g.30132393G>A
NC_000008.10:g.29989909G>A
NM_001100916.1:c.858C>T
NP_001094386.1:p.Pro286=
Position
Human AssemblyChrPosition (strand)Source
GRCh38830,132,393 - 30,132,393CLINVAR
GRCh37829,989,909 - 29,989,909CLINVAR
Cytogenetic Map88p12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15138326
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.