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Variant : CV211213 (NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)) Homo sapiens

Symbol: CV211213
Name: NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
Condition: not specified [RCV000197235]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 12/17/2014
Review Status: criteria provided, single submitter
Related Genes: SERAC1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_032889.1:g.26425G>A
NC_000006.12:g.158146856C>T
NC_000006.11:g.158567888C>T
NP_116250.3:p.Arg138Gln
NM_032861.4:c.413G>A
NM_032861.3:c.413G>A
NR_073096.1:n.555G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,146,856 - 158,146,856CLINVAR
GRCh376158,567,888 - 158,567,888CLINVAR
Cytogenetic Map66q25.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10409975
Created: 2015-11-10
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.