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Variant : CV26063 (NM_198270.4(NHS):c.3459del (p.Leu1154fs)) Homo sapiens

Symbol: CV26063
Name: NM_198270.4(NHS):c.3459del (p.Leu1154fs)
Condition: Nance-Horan syndrome [RCV000011771]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NP_938011.1:p.Leu1154fs
NP_001278796.1:p.Leu1175fs
NP_001278797.1:p.Leu977fs
NP_001129496.1:p.Leu998fs
NM_198270.4:c.3459del
NM_001291867.2:c.3522del
NG_011553.2:g.357209del
NC_000023.11:g.17727628del
NC_000023.10:g.17745748del
NM_198270.3:c.3459del
NM_001291868.2:c.2928del
NM_001136024.4:c.2991del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,628 - 17,727,628CLINVAR
GRCh37X17,745,748 - 17,745,748CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562110
Created: 2014-05-13
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.