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Variant : CV534771 (NM_198270.4(NHS):c.408C>T (p.Leu136=)) Homo sapiens

Symbol: CV534771
Name: NM_198270.4(NHS):c.408C>T (p.Leu136=)
Condition: Nance-Horan syndrome [RCV000638457]
Clinical Significance: likely benign
Last Evaluated: 08/15/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NP_938011.1:p.Leu136=
NG_011553.2:g.5746C>T
NC_000023.11:g.17376165C>T
NC_000023.10:g.17394288C>T
NM_001291867.2:c.408C>T
NM_198270.4:c.408C>T
NM_198270.3:c.408C>T
NP_001278796.1:p.Leu136=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,165 - 17,376,165CLINVAR
GRCh37X17,394,288 - 17,394,288CLINVAR
Cytogenetic MapXXp22.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13606573
Created: 2018-06-12
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.