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Variant : CV265131 (NM_000390.4(CHM):c.525_526del (p.Glu177fs)) Homo sapiens

Symbol: CV265131
Name: NM_000390.4(CHM):c.525_526del (p.Glu177fs)
Condition: not provided [RCV000355316]
Clinical Significance: pathogenic
Last Evaluated: 08/18/2015
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NP_001349448.1:p.Glu29fs
LRG_699:g.88721_88722del
LRG_699t1:c.525_526del
NM_001362519.1:c.81_82del
NG_009874.2:g.88721_88722del
NC_000023.11:g.85963841_85963842del
NC_000023.10:g.85218846_85218847del
NP_000381.1:p.Glu177fs
NM_001362517.1:c.81_82del
NM_000390.2:c.525_526delAG
NP_001307888.1:p.Glu29fs
NM_001320959.1:c.81_82del
NM_001362518.2:c.81_82del
NP_001349446.1:p.Glu29fs
NP_001349447.1:p.Glu29fs
NM_000390.4:c.525_526del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,963,841 - 85,963,842CLINVAR
GRCh37X85,218,846 - 85,218,847CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633648
Created: 2017-01-11
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.