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Variant : CV581048 (NM_198270.4(NHS):c.1111C>T (p.Arg371Trp)) Homo sapiens

Symbol: CV581048
Name: NM_198270.4(NHS):c.1111C>T (p.Arg371Trp)
Condition: History of neurodevelopmental disorder [RCV000721038]|Neurodevelopmental [RCV000721038]
Clinical Significance: uncertain significance
Last Evaluated: 05/24/2013
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): NP_001129496.1:p.Arg215Trp
NP_001278796.1:p.Arg392Trp
NM_001291867.2:c.1174C>T
NG_011553.2:g.353945C>T
NC_000023.11:g.17724364C>T
NC_000023.10:g.17742484C>T
NM_198270.2:c.1111C>T
NP_938011.1:p.Arg371Trp
NP_001278797.1:p.Arg194Trp
NM_198270.4:c.1111C>T
NM_001291868.2:c.580C>T
NM_001136024.4:c.643C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,364 - 17,724,364CLINVAR
GRCh37X17,742,484 - 17,742,484CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13830816
Created: 2018-12-06
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.