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Variant : CV470640 (NM_198270.4(NHS):c.1399_1402del (p.Asp467fs)) Homo sapiens

Symbol: CV470640
Name: NM_198270.4(NHS):c.1399_1402del (p.Asp467fs)
Condition: Nance-Horan syndrome [RCV000536969]
Clinical Significance: pathogenic
Last Evaluated: 06/29/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_198270.4:c.1399_1402del
NM_001291867.2:c.1462_1465del
NM_001291868.2:c.868_871del
NM_001136024.4:c.931_934del
NG_011553.2:g.355149_355152del
NC_000023.11:g.17725568_17725571del
NC_000023.10:g.17743688_17743691del
NM_198270.3:c.1399_1402delGACA
NP_001278797.1:p.Asp290fs
NP_001129496.1:p.Asp311fs
NP_938011.1:p.Asp467fs
NP_001278796.1:p.Asp488fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,725,568 - 17,725,571CLINVAR
GRCh37X17,743,688 - 17,743,691CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13500474
Created: 2018-01-09
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.