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Variant : CV26067 (NM_198270.4(NHS):c.853-2A>G) Homo sapiens

Symbol: CV26067
Name: NM_198270.4(NHS):c.853-2A>G
Condition: Nance-Horan syndrome [RCV000011775]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Nucleotide Change: ivs3as, a-g, -2
Evidence: literature only
HGVS Name(s): NM_001291868.2:c.322-2A>G
NM_001136024.4:c.385-2A>G
NM_198270.4:c.853-2A>G
NM_001291867.2:c.916-2A>G
NM_198270.3:c.853-2A>G
NG_011553.2:g.351020A>G
NC_000023.11:g.17721439A>G
NC_000023.10:g.17739559A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,721,439 - 17,721,439CLINVAR
GRCh37X17,739,559 - 17,739,559CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562112
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.