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Variant : CV265129 (NM_000390.4(CHM):c.799C>T (p.Arg267Ter)) Homo sapiens

Symbol: CV265129
Name: NM_000390.4(CHM):c.799C>T (p.Arg267Ter)
Condition: not provided [RCV000320612]
Clinical Significance: pathogenic
Last Evaluated: 12/18/2018
Review Status: 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
HGVS Name(s): LRG_699:g.93682C>T
NG_009874.2:g.93682C>T
NC_000023.11:g.85958881G>A
NC_000023.10:g.85213886G>A
NP_000381.1:p.Arg267Ter
NP_001349446.1:p.Arg119Ter
NP_001349447.1:p.Arg119Ter
LRG_699t1:c.799C>T
NM_001320959.1:c.355C>T
NM_001362517.1:c.355C>T
NM_001362518.2:c.355C>T
NM_001362519.1:c.355C>T
NP_001349448.1:p.Arg119Ter
NM_000390.4:c.799C>T
NP_001307888.1:p.Arg119Ter
NM_000390.2:c.799C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,958,881 - 85,958,881CLINVAR
GRCh37X85,213,886 - 85,213,886CLINVAR
Cytogenetic MapXXq21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633217
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.