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Variant : CV208984 (NM_198270.4(NHS):c.310_345del (p.Pro104_Ala115del)) Homo sapiens

Symbol: CV208984
Name: NM_198270.4(NHS):c.310_345del (p.Pro104_Ala115del)
Condition: History of neurodevelopmental disorder [RCV000716366]|Neurodevelopmental [RCV000716366]|not specified [RCV000193261]
Clinical Significance: benign|uncertain significance
Last Evaluated: 09/21/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.5648_5683del
NC_000023.10:g.17394190_17394225del
NP_001278796.1:p.Pro104_Ala115del
NP_938011.1:p.Pro104_Ala115del
NM_001291867.2:c.310_345del
NM_198270.4:c.310_345del
NC_000023.11:g.17376067_17376102del
NM_198270.2:c.310_345del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,067 - 17,376,102CLINVAR
GRCh37X17,394,190 - 17,394,225CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10408334
Created: 2015-11-10
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.