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Variant : CV142794 (NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)) Homo sapiens

Symbol: CV142794
Name: NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)
Condition: not provided [RCV000430682]|not specified [RCV000128021]
Clinical Significance: benign|likely benign
Last Evaluated: 10/11/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: SERAC1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NG_032889.1:g.15006T>C
NC_000006.12:g.158158275A>G
NC_000006.11:g.158579307A>G
NP_116250.3:p.Ile30Thr
NM_032861.4:c.89T>C
NR_073096.1:n.231T>C
NM_032861.3:c.89T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh386158,158,275 - 158,158,275CLINVAR
GRCh376158,579,307 - 158,579,307CLINVAR
Cytogenetic Map66q25.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8692827
Created: 2014-07-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.