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Variant : CV372964 (NM_001370595.1(COA8):c.40C>A (p.Pro14Thr)) Homo sapiens

Symbol: CV372964
Name: NM_001370595.1(COA8):c.40C>A (p.Pro14Thr)
Condition: not specified [RCV000431734]
Clinical Significance: likely benign
Last Evaluated: 05/23/2017
Review Status: criteria provided, single submitter
Related Genes: COA8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_032374.4:c.79C>A
NG_041786.1:g.5085C>A
NC_000014.9:g.103563041C>A
NC_000014.8:g.104029378C>A
NP_001289581.2:p.Pro14Thr
NP_001289582.2:p.Pro14Thr
NM_001302652.2:c.40C>A
NM_001302653.2:c.40C>A
NM_001302654.2:c.40C>A
NM_001370595.1:c.40C>A
NR_126431.2:n.82C>A
NR_126432.2:n.82C>A
NP_001289583.2:p.Pro14Thr
NP_001357524.1:p.Pro14Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh3814103,563,041 - 103,563,041CLINVAR
GRCh3714104,029,378 - 104,029,378CLINVAR
Cytogenetic Map1414q32.33CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12840976
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.