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Variant : CV378697 (NM_000390.4(CHM):c.133G>T (p.Gly45Ter)) Homo sapiens

Symbol: CV378697
Name: NM_000390.4(CHM):c.133G>T (p.Gly45Ter)
Condition: not provided [RCV000435190]
Clinical Significance: pathogenic
Last Evaluated: 05/26/2015
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|nonsense
Evidence: clinical testing
HGVS Name(s): LRG_699:g.70770G>T
NG_009874.2:g.70770G>T
NC_000023.11:g.85981793C>A
NC_000023.10:g.85236797C>A
NP_000381.1:p.Gly45Ter
NP_001138886.1:p.Gly45Ter
LRG_699t1:c.133G>T
NM_001362518.2:c.-308G>T
NM_001362519.1:c.-308G>T
NM_001320959.1:c.-312G>T
NM_001362517.1:c.-312G>T
NM_000390.4:c.133G>T
NM_001145414.4:c.133G>T
NM_000390.2:c.133G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,981,793 - 85,981,793CLINVAR
GRCh37X85,236,797 - 85,236,797CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12849745
Created: 2017-04-11
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.