Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV379557 (NM_000390.4(CHM):c.1334C>G (p.Ser445Ter)) Homo sapiens

Symbol: CV379557
Name: NM_000390.4(CHM):c.1334C>G (p.Ser445Ter)
Condition: not provided [RCV000431379]
Clinical Significance: pathogenic
Last Evaluated: 04/08/2015
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.151464C>G
NG_009874.2:g.151464C>G
NC_000023.11:g.85901099G>C
NC_000023.10:g.85156104G>C
NP_000381.1:p.Ser445Ter
LRG_699t1:c.1334C>G
NM_000390.4:c.1334C>G
NM_001320959.1:c.890C>G
NM_001362517.1:c.890C>G
NM_001362519.1:c.890C>G
NM_001362518.2:c.890C>G
NP_001349446.1:p.Ser297Ter
NP_001349448.1:p.Ser297Ter
NM_000390.2:c.1334C>G
NP_001307888.1:p.Ser297Ter
NP_001349447.1:p.Ser297Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,901,099 - 85,901,099CLINVAR
GRCh37X85,156,104 - 85,156,104CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12849525
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.