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Variant : CV572367 (NM_198270.4(NHS):c.4090G>A (p.Ala1364Thr)) Homo sapiens

Symbol: CV572367
Name: NM_198270.4(NHS):c.4090G>A (p.Ala1364Thr)
Condition: Nance-Horan syndrome [RCV000688774]
Clinical Significance: uncertain significance
Last Evaluated: 02/06/2018
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.357840G>A
NC_000023.11:g.17728259G>A
NC_000023.10:g.17746379G>A
NP_938011.1:p.Ala1364Thr
NM_001136024.4:c.3622G>A
NM_198270.4:c.4090G>A
NM_001291867.2:c.4153G>A
NM_198270.3:c.4090G>A
NP_001278797.1:p.Ala1187Thr
NP_001129496.1:p.Ala1208Thr
NP_001278796.1:p.Ala1385Thr
NM_001291868.2:c.3559G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,259 - 17,728,259CLINVAR
GRCh37X17,746,379 - 17,746,379CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13811475
Created: 2018-11-06
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.