Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV426499 (NM_000390.4(CHM):c.866_867dup (p.Val290fs)) Homo sapiens

Symbol: CV426499
Name: NM_000390.4(CHM):c.866_867dup (p.Val290fs)
Condition: not provided [RCV000498941]
Clinical Significance: pathogenic
Last Evaluated: 06/06/2017
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_000390.2:c.866_867dupTG
LRG_699:g.94634_94635dup
NG_009874.2:g.94634_94635dup
NC_000023.11:g.85957928_85957929dup
NC_000023.10:g.85212933_85212934dup
LRG_699t1:c.866_867dup
NM_001320959.1:c.422_423dup
NM_001362517.1:c.422_423dup
NM_001362518.2:c.422_423dup
NM_001362519.1:c.422_423dup
NM_000390.4:c.866_867dup
NP_001307888.1:p.Val142fs
NP_001349446.1:p.Val142fs
NP_001349447.1:p.Val142fs
NP_001349448.1:p.Val142fs
NP_000381.1:p.Val290fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,957,928 - 85,957,929CLINVAR
GRCh37X85,212,933 - 85,212,934CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13212531
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.