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Variant : CV470642 (NM_198270.4(NHS):c.1697T>C (p.Met566Thr)) Homo sapiens

Symbol: CV470642
Name: NM_198270.4(NHS):c.1697T>C (p.Met566Thr)
Condition: History of neurodevelopmental disorder [RCV000718379]|Nance-Horan syndrome [RCV000525160]|Neurodevelopmental [RCV000718379]
Clinical Significance: benign|likely benign
Last Evaluated: 05/11/2017
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.355447T>C
NC_000023.11:g.17725866T>C
NC_000023.10:g.17743986T>C
NP_938011.1:p.Met566Thr
NM_198270.2:c.1697T>C
NM_001291868.2:c.1166T>C
NP_001278797.1:p.Met389Thr
NP_001129496.1:p.Met410Thr
NP_001278796.1:p.Met587Thr
NM_001136024.4:c.1229T>C
NM_198270.4:c.1697T>C
NM_001291867.2:c.1760T>C
NM_198270.3:c.1697T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,725,866 - 17,725,866CLINVAR
GRCh37X17,743,986 - 17,743,986CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13497571
Created: 2018-01-09
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.