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Variant : CV102535 (NM_198270.4(NHS):c.4365_4367dup (p.Ser1459dup)) Homo sapiens

Symbol: CV102535
Name: NM_198270.4(NHS):c.4365_4367dup (p.Ser1459dup)
Condition: not provided [RCV000082804]
Clinical Significance: uncertain significance
Last Evaluated: 04/30/2013
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: duplication (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.361517_361519dup
NP_001129496.1:p.Ser1303dup
NP_938011.1:p.Ser1459dup
NM_198270.2:c.4365_4367dupTAG
NM_001291868.2:c.3834_3836dup
NM_001136024.4:c.3897_3899dup
NM_198270.4:c.4365_4367dup
NM_001291867.2:c.4428_4430dup
NC_000023.11:g.17731936_17731938dup
NC_000023.10:g.17750056_17750058dup
NP_001278796.1:p.Ser1480dup
NP_001278797.1:p.Ser1282dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,731,936 - 17,731,938CLINVAR
GRCh37X17,750,056 - 17,750,058CLINVAR
Cytogenetic MapXXp22.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643552
Created: 2014-05-13
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.