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Variant : CV348657 (NM_014332.3(SMPX):c.*395T>G) Homo sapiens

Symbol: CV348657
Name: NM_014332.3(SMPX):c.*395T>G
Condition: Nonsyndromic Hearing Loss, X-Linked [RCV000316459]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SMPX  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_031916.1:g.57147T>G
NC_000023.11:g.21706014A>C
NC_000023.10:g.21724132A>C
NM_014332.2:c.*395T>G
NR_045617.1:n.995T>G
NM_014332.3:c.*395T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X21,706,014 - 21,706,014CLINVAR
GRCh37X21,724,132 - 21,724,132CLINVAR
Cytogenetic MapXXp22.12CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11629166
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.