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Variant : CV439084 (NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)) Homo sapiens

Symbol: CV439084
Name: NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)
Condition: not provided [RCV000514727]
Clinical Significance: likely pathogenic
Last Evaluated: 08/31/2017
Review Status: criteria provided, single submitter
Related Genes: SERAC1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NC_000006.11:g.158541464G>A
NG_032889.1:g.52849C>T
NC_000006.12:g.158120432G>A
NP_116250.3:p.Arg387Ter
NM_032861.4:c.1159C>T
NR_073096.1:n.1187C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,120,432 - 158,120,432CLINVAR
GRCh376158,541,464 - 158,541,464 (+)CLINVAR
Cytogenetic Map66q25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13462737
Created: 2017-12-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.