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Variant : CV711774 (NM_004435.2(ENDOG):c.734G>T (p.Arg245Leu)) Homo sapiens

Symbol: CV711774
Name: NM_004435.2(ENDOG):c.734G>T (p.Arg245Leu)
Condition: not provided [RCV000971912]
Clinical Significance: benign
Last Evaluated: 07/30/2018
Review Status: criteria provided, single submitter
Related Genes: ENDOG   SPOUT1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_016390.4:c.*315C>A
NM_004435.2:c.734G>T
NG_046991.1:g.9040G>T
NC_000009.12:g.128822450G>T
NC_000009.11:g.131584729G>T
NP_004426.2:p.Arg245Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh389128,822,450 - 128,822,450CLINVAR
GRCh379131,584,729 - 131,584,729CLINVAR
Cytogenetic Map99q34.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15169930
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-20
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.