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Variant : CV362596 (NM_198270.4(NHS):c.4385C>G (p.Ser1462Cys)) Homo sapiens

Symbol: CV362596
Name: NM_198270.4(NHS):c.4385C>G (p.Ser1462Cys)
Condition: Nance-Horan syndrome [RCV000498961]
Clinical Significance: pathogenic
Last Evaluated: 02/12/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NG_011553.2:g.361537C>G
NC_000023.11:g.17731956C>G
NC_000023.10:g.17750076C>G
NP_938011.1:p.Ser1462Cys
NM_001291868.2:c.3854C>G
NM_001136024.4:c.3917C>G
NM_198270.4:c.4385C>G
NM_001291867.2:c.4448C>G
NM_198270.3:c.4385C>G
NP_001278797.1:p.Ser1285Cys
NP_001129496.1:p.Ser1306Cys
NP_001278796.1:p.Ser1483Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,731,956 - 17,731,956CLINVAR
GRCh37X17,750,076 - 17,750,076CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: Syndromic intellectual disability, X-linked; X-linked mental retardation, syndromic
Age Of Onset: neonatal



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13211273
Created: 2017-09-12
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.