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Variant : CV190677 (NM_198270.4(NHS):c.565+7A>C) Homo sapiens

Symbol: CV190677
Name: NM_198270.4(NHS):c.565+7A>C
Condition: not specified [RCV000173588]
Clinical Significance: uncertain significance
Last Evaluated: 12/01/2014
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001291867.2:c.565+7A>C
NM_198270.4:c.565+7A>C
NG_011553.2:g.5910A>C
NC_000023.11:g.17376329A>C
NC_000023.10:g.17394452A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,329 - 17,376,329CLINVAR
GRCh37X17,394,452 - 17,394,452CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10049614
Created: 2015-07-14
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.