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Variant : CV729085 (NM_001008496.3(PIWIL3):c.376C>G (p.Gln126Glu)) Homo sapiens

Symbol: CV729085
Name: NM_001008496.3(PIWIL3):c.376C>G (p.Gln126Glu)
Condition: not provided [RCV000883595]
Clinical Significance: likely benign
Last Evaluated: 03/29/2018
Review Status: criteria provided, single submitter
Related Genes: PIWIL3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001008496.3:c.376C>G
NM_001255975.1:c.376C>G
NC_000022.11:g.24756685G>C
NC_000022.10:g.25152652G>C
NR_045648.1:n.1007C>G
NP_001008496.2:p.Gln126Glu
NR_045649.1:n.880C>G
NP_001242904.1:p.Gln126Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh382224,756,685 - 24,756,685CLINVAR
GRCh372225,152,652 - 25,152,652CLINVAR
Cytogenetic Map2222q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15171122
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-09-29
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.