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Variant : CV495631 (NM_198270.4(NHS):c.3384del (p.Glu1129fs)) Homo sapiens

Symbol: CV495631
Name: NM_198270.4(NHS):c.3384del (p.Glu1129fs)
Condition: not provided [RCV000598804]
Clinical Significance: pathogenic
Last Evaluated: 12/07/2017
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_001291868.2:c.2853del
NP_001129496.1:p.Glu973fs
NM_198270.2:c.3384delT
NM_198270.4:c.3384del
NM_001291867.2:c.3447del
NG_011553.2:g.357134del
NC_000023.11:g.17727553del
NC_000023.10:g.17745673del
NP_938011.1:p.Glu1129fs
NP_001278796.1:p.Glu1150fs
NP_001278797.1:p.Glu952fs
NM_001136024.4:c.2916del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,553 - 17,727,553CLINVAR
GRCh37X17,745,673 - 17,745,673CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13520645
Created: 2018-04-10
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.