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Variant : CV368489 (NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)) Homo sapiens

Symbol: CV368489
Name: NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)
Condition: not specified [RCV000427047]
Clinical Significance: likely benign
Last Evaluated: 06/10/2015
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.28926G>A
NC_000006.12:g.158144355C>T
NC_000006.11:g.158565387C>T
NP_116250.3:p.Glu185Lys
NM_032861.3:c.553G>A
NR_073096.1:n.695G>A
NM_032861.4:c.553G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,144,355 - 158,144,355CLINVAR
GRCh376158,565,387 - 158,565,387CLINVAR
Cytogenetic Map66q25.3CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12838483
Created: 2017-04-11
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.