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Variant : CV411506 (NM_000390.4(CHM):c.41dup (p.Gly15fs)) Homo sapiens

Symbol: CV411506
Name: NM_000390.4(CHM):c.41dup (p.Gly15fs)
Condition: not provided [RCV000485407]
Clinical Significance: pathogenic
Last Evaluated: 03/31/2015
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): NP_000381.1:p.Gly15fs
NP_001138886.1:p.Gly15fs
LRG_699:g.5071dup
NG_009874.2:g.5071dup
LRG_699t1:c.41dup
NM_000390.4:c.41dup
NM_001145414.4:c.41dup
NC_000023.11:g.86047492dup
NC_000023.10:g.85302496dup
NM_000390.2:c.41dupT
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,047,492 - 86,047,492CLINVAR
GRCh37X85,302,496 - 85,302,496CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12895154
Created: 2017-05-09
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.