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Variant : CV470647 (NM_198270.4(NHS):c.2214T>C (p.Tyr738=)) Homo sapiens

Symbol: CV470647
Name: NM_198270.4(NHS):c.2214T>C (p.Tyr738=)
Condition: Nance-Horan syndrome [RCV000526445]
Clinical Significance: likely benign
Last Evaluated: 11/27/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.355964T>C
NC_000023.11:g.17726383T>C
NC_000023.10:g.17744503T>C
NP_938011.1:p.Tyr738=
NM_001291868.2:c.1683T>C
NM_001136024.4:c.1746T>C
NM_198270.3:c.2214T>C
NP_001129496.1:p.Tyr582=
NP_001278796.1:p.Tyr759=
NP_001278797.1:p.Tyr561=
NM_198270.4:c.2214T>C
NM_001291867.2:c.2277T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,383 - 17,726,383CLINVAR
GRCh37X17,744,503 - 17,744,503CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13497876
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.