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Variant : CV573752 (NM_198270.4(NHS):c.2414G>A (p.Trp805Ter)) Homo sapiens

Symbol: CV573752
Name: NM_198270.4(NHS):c.2414G>A (p.Trp805Ter)
Condition: Nance-Horan syndrome [RCV000691139]
Clinical Significance: pathogenic
Last Evaluated: 06/26/2018
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): NM_001291867.2:c.2477G>A
NM_198270.3:c.2414G>A
NP_001278797.1:p.Trp628Ter
NP_001129496.1:p.Trp649Ter
NG_011553.2:g.356164G>A
NC_000023.11:g.17726583G>A
NC_000023.10:g.17744703G>A
NP_938011.1:p.Trp805Ter
NM_001291868.2:c.1883G>A
NM_001136024.4:c.1946G>A
NM_198270.4:c.2414G>A
NP_001278796.1:p.Trp826Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,583 - 17,726,583CLINVAR
GRCh37X17,744,703 - 17,744,703CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13814812
Created: 2018-11-06
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.