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Variant : CV177176 (NM_198270.4(NHS):c.4603T>A (p.Ser1535Thr)) Homo sapiens

Symbol: CV177176
Name: NM_198270.4(NHS):c.4603T>A (p.Ser1535Thr)
Condition: Nance-Horan syndrome [RCV000552111]|not specified [RCV000153559]
Clinical Significance: benign
Last Evaluated: 10/18/2017
Review Status: classified by single submitter|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_001291868.2:c.4072T>A
NM_001136024.4:c.4135T>A
NM_198270.4:c.4603T>A
NM_001291867.2:c.4666T>A
NM_198270.3:c.4603T>A
NP_001278797.1:p.Ser1358Thr
NP_001129496.1:p.Ser1379Thr
NP_938011.1:p.Ser1535Thr
NP_938011.1:p.Ser1535Thr
NP_001278796.1:p.Ser1556Thr
NG_011553.2:g.361755T>A
NC_000023.11:g.17732174T>A
NC_000023.10:g.17750294T>A
NP_938011.1:p.Ser1535Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,732,174 - 17,732,174CLINVAR
GRCh37X17,750,294 - 17,750,294CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9688379
Created: 2015-02-10
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.