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Variant : CV472111 (NM_198270.4(NHS):c.4093A>T (p.Lys1365Ter)) Homo sapiens

Symbol: CV472111
Name: NM_198270.4(NHS):c.4093A>T (p.Lys1365Ter)
Condition: Nance-Horan syndrome [RCV000539510]
Clinical Significance: pathogenic
Last Evaluated: 12/13/2016
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): NG_011553.2:g.357843A>T
NC_000023.11:g.17728262A>T
NC_000023.10:g.17746382A>T
NP_938011.1:p.Lys1365Ter
NP_001129496.1:p.Lys1209Ter
NP_001278796.1:p.Lys1386Ter
NM_198270.3:c.4093A>T
NP_001278797.1:p.Lys1188Ter
NM_001291868.2:c.3562A>T
NM_001136024.4:c.3625A>T
NM_198270.4:c.4093A>T
NM_001291867.2:c.4156A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,262 - 17,728,262CLINVAR
GRCh37X17,746,382 - 17,746,382CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13501062
Created: 2018-01-09
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.