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Variant : CV580904 (NM_198270.4(NHS):c.3722C>T (p.Thr1241Met)) Homo sapiens

Symbol: CV580904
Name: NM_198270.4(NHS):c.3722C>T (p.Thr1241Met)
Condition: History of neurodevelopmental disorder [RCV000718264]|Neurodevelopmental [RCV000718264]
Clinical Significance: likely benign
Last Evaluated: 02/23/2017
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): NG_011553.2:g.357472C>T
NC_000023.11:g.17727891C>T
NC_000023.10:g.17746011C>T
NM_198270.2:c.3722C>T
NP_938011.1:p.Thr1241Met
NM_001291868.2:c.3191C>T
NM_001136024.4:c.3254C>T
NM_198270.4:c.3722C>T
NP_001278796.1:p.Thr1262Met
NM_001291867.2:c.3785C>T
NP_001278797.1:p.Thr1064Met
NP_001129496.1:p.Thr1085Met
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,891 - 17,727,891CLINVAR
GRCh37X17,746,011 - 17,746,011CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13829487
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.