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Variant : CV580748 (NM_198270.4(NHS):c.1660A>G (p.Lys554Glu)) Homo sapiens

Symbol: CV580748
Name: NM_198270.4(NHS):c.1660A>G (p.Lys554Glu)
Condition: History of neurodevelopmental disorder [RCV000719685]|Neurodevelopmental [RCV000719685]
Clinical Significance: uncertain significance
Last Evaluated: 12/08/2017
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): NC_000023.10:g.17743949A>G
NP_938011.1:p.Lys554Glu
NC_000023.11:g.17725829A>G
NM_198270.2:c.1660A>G
NM_001291868.2:c.1129A>G
NM_001136024.4:c.1192A>G
NM_198270.4:c.1660A>G
NM_001291867.2:c.1723A>G
NP_001278797.1:p.Lys377Glu
NP_001129496.1:p.Lys398Glu
NP_001278796.1:p.Lys575Glu
NG_011553.2:g.355410A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,725,829 - 17,725,829CLINVAR
GRCh37X17,743,949 - 17,743,949CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13830189
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.