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Variant : CV482268 (NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)) Homo sapiens

Symbol: CV482268
Name: NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)
Condition: not provided [RCV000578632]
Clinical Significance: pathogenic
Last Evaluated: 12/19/2017
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.141276C>A
NC_000023.11:g.85911287G>T
NC_000023.10:g.85166292G>T
NG_009874.2:g.141276C>A
NP_000381.1:p.Cys406Ter
LRG_699t1:c.1218C>A
NM_000390.4:c.1218C>A
NM_001320959.1:c.774C>A
NM_001362517.1:c.774C>A
NM_001362518.2:c.774C>A
NM_001362519.1:c.774C>A
NM_000390.2:c.1218C>A
NP_001307888.1:p.Cys258Ter
NP_001349446.1:p.Cys258Ter
NP_001349447.1:p.Cys258Ter
NP_001349448.1:p.Cys258Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,911,287 - 85,911,287CLINVAR
GRCh37X85,166,292 - 85,166,292CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13508954
Created: 2018-03-06
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.