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Variant : CV135219 (NM_198270.4(NHS):c.2768A>T (p.His923Leu)) Homo sapiens

Symbol: CV135219
Name: NM_198270.4(NHS):c.2768A>T (p.His923Leu)
Condition: AllHighlyPenetrant [RCV000117789]|History of neurodevelopmental disorder [RCV000716149]|Nance-Horan syndrome [RCV000554490]|Neurodevelopmental [RCV000716149]|not provided [RCV000826994]|not specified [RCV000117789]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 05/10/2018
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_001291868.2:c.2237A>T
NP_938011.1:p.His923Leu
NP_938011.1:p.His923Leu
NP_938011.1:p.His923Leu
NP_001278796.1:p.His944Leu
NM_001136024.4:c.2300A>T
NM_198270.4:c.2768A>T
NP_001278797.1:p.His746Leu
NP_001129496.1:p.His767Leu
NM_198270.2:c.2768A>T
NM_001291867.2:c.2831A>T
NM_198270.3:c.2768A>T
NC_000023.11:g.17726937A>T
NC_000023.10:g.17745057A>T
NM_198270.2:c.2768A>T
NP_938011.1:p.His923Leu
NG_011553.2:g.356518A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,937 - 17,726,937CLINVAR
GRCh37X17,745,057 - 17,745,057CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660204
Created: 2014-06-10
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.