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Variant : CV512629 (NM_198270.4(NHS):c.1168C>T (p.Gln390Ter)) Homo sapiens

Symbol: CV512629
Name: NM_198270.4(NHS):c.1168C>T (p.Gln390Ter)
Condition: Inborn genetic diseases [RCV000623307]
Clinical Significance: pathogenic
Last Evaluated: 02/16/2016
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.17724421C>T
NG_011553.2:g.354002C>T
NP_938011.1:p.Gln390Ter
NC_000023.10:g.17742541C>T
NM_198270.2:c.1168C>T
NM_001291867.2:c.1231C>T
NM_001291868.2:c.637C>T
NM_001136024.4:c.700C>T
NP_001278797.1:p.Gln213Ter
NP_001129496.1:p.Gln234Ter
NP_001278796.1:p.Gln411Ter
NM_198270.4:c.1168C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,421 - 17,724,421CLINVAR
GRCh37X17,742,541 - 17,742,541CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531402
Created: 2018-05-08
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.