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Variant : CV550000 (NM_001370595.1(COA8):c.101G>T (p.Arg34Leu)) Homo sapiens

Symbol: CV550000
Name: NM_001370595.1(COA8):c.101G>T (p.Arg34Leu)
Condition: not provided [RCV000676911]
Clinical Significance: uncertain significance
Last Evaluated: 09/15/2017
Review Status: no assertion criteria provided
Related Genes: COA8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.103563102G>T
NM_032374.4:c.140G>T
NC_000014.8:g.104029439G>T
NG_041786.1:g.5146G>T
NM_001302652.2:c.101G>T
NM_001302653.2:c.101G>T
NM_001302654.2:c.101G>T
NM_001370595.1:c.101G>T
NR_126431.2:n.143G>T
NR_126432.2:n.143G>T
NP_001289581.2:p.Arg34Leu
NP_001289582.2:p.Arg34Leu
NP_001289583.2:p.Arg34Leu
NP_001357524.1:p.Arg34Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh3814103,563,102 - 103,563,102CLINVAR
GRCh3714104,029,439 - 104,029,439CLINVAR
Cytogenetic Map1414q32.33CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13789814
Created: 2018-09-11
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.