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Variant : CV611936 (NM_198270.4(NHS):c.742C>T (p.Arg248Ter)) Homo sapiens

Symbol: CV611936
Name: NM_198270.4(NHS):c.742C>T (p.Arg248Ter)
Condition: Nance-Horan syndrome [RCV000816102]|not provided [RCV000760381]
Clinical Significance: pathogenic
Last Evaluated: 12/26/2018
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): NG_011553.2:g.321939C>T
NC_000023.11:g.17692358C>T
NC_000023.10:g.17710478C>T
NM_198270.2:c.742C>T
NP_938011.1:p.Arg248Ter
NM_001136024.4:c.211C>T
NM_001291868.2:c.211C>T
NM_001291867.2:c.742C>T
NM_198270.4:c.742C>T
NM_198270.3:c.742C>T
NP_001278796.1:p.Arg248Ter
NP_001129496.1:p.Arg71Ter
NP_001278797.1:p.Arg71Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,692,358 - 17,692,358CLINVAR
GRCh37X17,710,478 - 17,710,478CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14395759
Created: 2019-04-09
Species: Homo sapiens
Last Modified: 2019-09-06
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.