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Variant : CV177867 (NM_198270.4(NHS):c.565+1G>T) Homo sapiens

Symbol: CV177867
Name: NM_198270.4(NHS):c.565+1G>T
Condition: not provided [RCV000153564]
Clinical Significance: pathogenic
Last Evaluated: 01/31/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.5904G>T
NC_000023.11:g.17376323G>T
NC_000023.10:g.17394446G>T
NM_001291867.2:c.565+1G>T
NM_198270.4:c.565+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,323 - 17,376,323CLINVAR
GRCh37X17,394,446 - 17,394,446CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9693115
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-09-06
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.