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Variant : CV195455 (NM_198270.4(NHS):c.3247C>T (p.His1083Tyr)) Homo sapiens

Symbol: CV195455
Name: NM_198270.4(NHS):c.3247C>T (p.His1083Tyr)
Condition: History of neurodevelopmental disorder [RCV000719007]|Neurodevelopmental [RCV000719007]|not specified [RCV000179571]
Clinical Significance: benign|uncertain significance
Last Evaluated: 05/31/2017
Review Status: 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_198270.2:c.3247C>T
NM_001291868.2:c.2716C>T
NM_001136024.4:c.2779C>T
NM_198270.4:c.3247C>T
NM_001291867.2:c.3310C>T
NP_001278797.1:p.His906Tyr
NP_001278796.1:p.His1104Tyr
NP_001129496.1:p.His927Tyr
NG_011553.2:g.356997C>T
NC_000023.11:g.17727416C>T
NC_000023.10:g.17745536C>T
NP_938011.1:p.His1083Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,416 - 17,727,416CLINVAR
GRCh37X17,745,536 - 17,745,536CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10052874
Created: 2015-07-14
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.