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Variant : CV534679 (NM_198270.4(NHS):c.2846C>T (p.Thr949Met)) Homo sapiens

Symbol: CV534679
Name: NM_198270.4(NHS):c.2846C>T (p.Thr949Met)
Condition: Nance-Horan syndrome [RCV000638458]
Clinical Significance: likely benign
Last Evaluated: 09/27/2017
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): NM_198270.4:c.2846C>T
NM_001291867.2:c.2909C>T
NM_198270.3:c.2846C>T
NP_001278796.1:p.Thr970Met
NG_011553.2:g.356596C>T
NC_000023.11:g.17727015C>T
NP_938011.1:p.Thr949Met
NC_000023.10:g.17745135C>T
NM_001291868.2:c.2315C>T
NM_001136024.4:c.2378C>T
NP_001278797.1:p.Thr772Met
NP_001129496.1:p.Thr793Met
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,015 - 17,727,015CLINVAR
GRCh37X17,745,135 - 17,745,135CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13606574
Created: 2018-06-12
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.