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Variant : CV360696 (NM_000390.4(CHM):c.1437dup (p.Glu480fs)) Homo sapiens

Symbol: CV360696
Name: NM_000390.4(CHM):c.1437dup (p.Glu480fs)
Condition: not provided [RCV000412929]
Clinical Significance: pathogenic
Last Evaluated: 04/28/2015
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_000390.4:c.1437dup
NM_001320959.1:c.993dup
NM_001362517.1:c.993dup
NM_001362518.2:c.993dup
NG_009874.2:g.158302dup
LRG_699:g.158302dup
LRG_699t1:c.1437dup
NC_000023.11:g.85894261dup
NC_000023.10:g.85149266dup
NM_000390.2:c.1437dupA
NP_001307888.1:p.Glu332fs
NP_001349446.1:p.Glu332fs
NP_001349447.1:p.Glu332fs
NP_001349448.1:p.Glu332fs
NP_000381.1:p.Glu480fs
NM_001362519.1:c.993dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,894,261 - 85,894,261CLINVAR
GRCh37X85,149,266 - 85,149,266CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12742129
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2019-09-06
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.