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Variant : CV624308 (NM_007214.5(SEC63):c.806C>T (p.Thr269Met)) Homo sapiens

Symbol: CV624308
Name: NM_007214.5(SEC63):c.806C>T (p.Thr269Met)
Condition: not provided [RCV000788859]
Clinical Significance: uncertain significance
Last Evaluated: 12/18/2018
Review Status: criteria provided, single submitter
Related Genes: SEC63  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_007214.5:c.806C>T
NG_008270.1:g.56574C>T
NP_009145.1:p.Thr269Met
NC_000006.12:g.107906705G>A
NC_000006.11:g.108227909G>A
NM_007214.4:c.806C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh386107,906,705 - 107,906,705CLINVAR
GRCh376108,227,909 - 108,227,909CLINVAR
Cytogenetic Map66q21CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14699477
Created: 2019-08-06
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.