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Variant : CV411208 (NM_198270.4(NHS):c.565+5G>A) Homo sapiens

Symbol: CV411208
Name: NM_198270.4(NHS):c.565+5G>A
Condition: not provided [RCV000483234]
Clinical Significance: likely pathogenic
Last Evaluated: 06/01/2016
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): NG_011553.2:g.5908G>A
NC_000023.11:g.17376327G>A
NC_000023.10:g.17394450G>A
NM_198270.2:c.565+5G>A
NM_001291867.2:c.565+5G>A
NM_198270.4:c.565+5G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,327 - 17,376,327CLINVAR
GRCh37X17,394,450 - 17,394,450CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12894544
Created: 2017-05-09
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.