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Variant : CV208986 (NM_198270.4(NHS):c.1880_1882dup (p.Thr627dup)) Homo sapiens

Symbol: CV208986
Name: NM_198270.4(NHS):c.1880_1882dup (p.Thr627dup)
Condition: not specified [RCV000192923]
Clinical Significance: uncertain significance
Last Evaluated: 08/05/2015
Review Status: criteria provided, single submitter
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.355630_355632dup
NP_001278796.1:p.Thr648dup
NM_001136024.4:c.1412_1414dup
NM_198270.4:c.1880_1882dup
NM_001291867.2:c.1943_1945dup
NC_000023.11:g.17726049_17726051dup
NC_000023.10:g.17744169_17744171dup
NP_001129496.1:p.Thr471dup
NP_938011.1:p.Thr627dup
NM_001291868.2:c.1349_1351dup
NP_001278797.1:p.Thr450dup
NM_198270.2:c.1880_1882dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,049 - 17,726,051CLINVAR
GRCh37X17,744,169 - 17,744,171CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10408294
Created: 2015-11-10
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.