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Variant : CV189054 (NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)) Homo sapiens

Symbol: CV189054
Name: NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)
Condition: not provided [RCV000171441]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 01/13/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing|research
HGVS Name(s): NG_009874.2:g.96388G>T
NC_000023.11:g.85956175C>A
NC_000023.10:g.85211180C>A
NP_000381.1:p.Glu382Ter
LRG_699t1:c.1144G>T
LRG_699:g.96388G>T
NM_000390.4:c.1144G>T
NM_001320959.1:c.700G>T
NM_001362517.1:c.700G>T
NM_001362518.2:c.700G>T
NM_001362519.1:c.700G>T
NM_000390.2:c.1144G>T
NP_001307888.1:p.Glu234Ter
NP_001349446.1:p.Glu234Ter
NP_001349447.1:p.Glu234Ter
NP_001349448.1:p.Glu234Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,956,175 - 85,956,175CLINVAR
GRCh37X85,211,180 - 85,211,180CLINVAR
Cytogenetic MapXXq21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10045254
Created: 2015-06-09
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.