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Variant : CV439005 (NM_198270.4(NHS):c.566-52165C>T) Homo sapiens

Symbol: CV439005
Name: NM_198270.4(NHS):c.566-52165C>T
Condition: not provided [RCV000514409]
Clinical Significance: likely benign
Last Evaluated: 05/30/2017
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.265158C>T
NC_000023.10:g.17653697C>T
NC_000023.11:g.17635577C>T
NP_001129496.1:p.Ala4Val
NM_001136024.4:c.11C>T
NM_001291868.2:c.11C>T
NM_001291867.2:c.566-52165C>T
NM_198270.4:c.566-52165C>T
NP_001278797.1:p.Ala4Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,635,577 - 17,635,577CLINVAR
GRCh37X17,653,697 - 17,653,697 (+)CLINVAR
Cytogenetic MapXXp22.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13462582
Created: 2017-12-12
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.