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Variant : CV352180 (NM_014332.3(SMPX):c.132G>A (p.Glu44=)) Homo sapiens

Symbol: CV352180
Name: NM_014332.3(SMPX):c.132G>A (p.Glu44=)
Condition: Nonsyndromic Hearing Loss, X-Linked [RCV000340837]|not provided [RCV000515115]
Clinical Significance: likely benign
Last Evaluated: 09/18/2017
Review Status: criteria provided, single submitter
Related Genes: SMPX  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_031916.1:g.19411G>A
NC_000023.11:g.21743750C>T
NC_000023.10:g.21761868C>T
NP_055147.1:p.Glu44=
NM_014332.3:c.132G>A
NM_014332.2:c.132G>A
NR_045617.1:n.363G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X21,743,750 - 21,743,750CLINVAR
GRCh37X21,761,868 - 21,761,868CLINVAR
Cytogenetic MapXXp22.12CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11630107
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.