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Variant : CV135217 (NM_198270.4(NHS):c.333_335GGC[3] (p.Ala115_Ala117del)) Homo sapiens

Symbol: CV135217
Name: NM_198270.4(NHS):c.333_335GGC[3] (p.Ala115_Ala117del)
Condition: not provided [RCV000117786]
Clinical Significance: uncertain significance
Last Evaluated: 07/17/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NM_001291867.2:c.333_335GGC[3]
NM_198270.4:c.333_335GGC[3]
NG_011553.2:g.5671_5673GGC[3]
NC_000023.11:g.17376090_17376092GGC[3]
NC_000023.10:g.17394213_17394215GGC[3]
NP_001278796.1:p.Ala115_Ala117del
NM_198270.2:c.342_350del
NP_938011.1:p.Ala115_Ala117del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,099 - 17,376,107CLINVAR
GRCh37X17,394,222 - 17,394,230CLINVAR
Cytogenetic MapXXp22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660202
Created: 2014-06-10
Species: Homo sapiens
Last Modified: 2019-09-10
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.