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Variant : CV135215 (NM_198270.4(NHS):c.2530G>A (p.Ala844Thr)) Homo sapiens

Symbol: CV135215
Name: NM_198270.4(NHS):c.2530G>A (p.Ala844Thr)
Condition: History of neurodevelopmental disorder [RCV000718487]|Nance-Horan syndrome [RCV000541891]|Neurodevelopmental [RCV000718487]|not provided [RCV000117784]|not specified [RCV000192005]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 12/07/2017
Review Status: classified by multiple submitters|classified by single submitter|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 variant
Evidence: clinical testing
HGVS Name(s): NM_001291868.2:c.1999G>A
NM_001136024.4:c.2062G>A
NP_938011.1:p.Ala844Thr
NP_001278796.1:p.Ala865Thr
NP_001129496.1:p.Ala688Thr
NP_938011.1:p.Ala844Thr
NP_938011.1:p.Ala844Thr
NM_198270.4:c.2530G>A
NM_001291867.2:c.2593G>A
NM_198270.3:c.2530G>A
NP_001278797.1:p.Ala667Thr
NC_000023.11:g.17726699G>A
NC_000023.10:g.17744819G>A
NM_198270.2:c.2530G>A
NP_938011.1:p.Ala844Thr
NG_011553.2:g.356280G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,699 - 17,726,699CLINVAR
GRCh37X17,744,819 - 17,744,819CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660200
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.