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Variant : CV211207 (NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)) Homo sapiens

Symbol: CV211207
Name: NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)
Condition: not specified [RCV000197405]
Clinical Significance: uncertain significance
Last Evaluated: 11/25/2013
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.58343C>T
NC_000006.12:g.158114938G>A
NC_000006.11:g.158535970G>A
NP_116250.3:p.Ser512Phe
NM_032861.4:c.1535C>T
NM_032861.3:c.1535C>T
NR_073096.1:n.1468C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,114,938 - 158,114,938CLINVAR
GRCh376158,535,970 - 158,535,970CLINVAR
Cytogenetic Map66q25.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10410057
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.