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Variant : CV102528 (NM_198270.4(NHS):c.207_209GCC[3] (p.Pro73del)) Homo sapiens

Symbol: CV102528
Name: NM_198270.4(NHS):c.207_209GCC[3] (p.Pro73del)
Condition: AllHighlyPenetrant [RCV000082797]|History of neurodevelopmental disorder [RCV000715946]|Nance-Horan syndrome [RCV000550294]|Neurodevelopmental [RCV000715946]|not specified [RCV000082797]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 04/25/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NHS  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NM_198270.3:c.216_218delGCC
NP_001278796.1:p.Pro73del
NM_001291867.2:c.207_209GCC[3]
NM_198270.4:c.207_209GCC[3]
NG_011553.2:g.5545_5547GCC[3]
NC_000023.11:g.17375964_17375966GCC[3]
NC_000023.10:g.17394087_17394089GCC[3]
NM_198270.2:c.216_218delGCC
NP_938011.1:p.Pro73del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,973 - 17,375,975CLINVAR
GRCh37X17,394,096 - 17,394,098CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643545
Created: 2014-05-13
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.