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Variant : CV711232 (NM_017884.6(PINX1):c.684C>G (p.Leu228=)) Homo sapiens

Symbol: CV711232
Name: NM_017884.6(PINX1):c.684C>G (p.Leu228=)
Condition: not provided [RCV000972257]
Clinical Significance: benign
Last Evaluated: 08/20/2018
Review Status: criteria provided, single submitter
Related Genes: AC105001.1   PINX1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001284356.1:c.*82C>G
NM_017884.6:c.684C>G
NC_000008.11:g.10765704G>C
NC_000008.10:g.10623214G>C
NM_017884.5:c.684C>G
NP_060354.4:p.Leu228=
Position
Human AssemblyChrPosition (strand)Source
GRCh38810,765,704 - 10,765,704CLINVAR
GRCh37810,623,214 - 10,623,214CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15171730
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-09-22
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.