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Variant : CV360709 (NM_000390.4(CHM):c.1019C>A (p.Ser340Ter)) Homo sapiens

Symbol: CV360709
Name: NM_000390.4(CHM):c.1019C>A (p.Ser340Ter)
Condition: not provided [RCV000414588]
Clinical Significance: pathogenic
Last Evaluated: 08/05/2015
Review Status: 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.96263C>A
NG_009874.2:g.96263C>A
NC_000023.11:g.85956300G>T
NC_000023.10:g.85211305G>T
NP_000381.1:p.Ser340Ter
NM_000390.4:c.1019C>A
NM_001320959.1:c.575C>A
NM_001362517.1:c.575C>A
NM_001362518.2:c.575C>A
NM_001362519.1:c.575C>A
NM_000390.2:c.1019C>A
NP_001307888.1:p.Ser192Ter
NP_001349446.1:p.Ser192Ter
NP_001349447.1:p.Ser192Ter
NP_001349448.1:p.Ser192Ter
LRG_699t1:c.1019C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,956,300 - 85,956,300CLINVAR
GRCh37X85,211,305 - 85,211,305CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12742808
Created: 2017-02-07
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.