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Variant : CV329972 (NM_139319.3(SLC17A8):c.*1496_*1497insT) Homo sapiens

Symbol: CV329972
Name: NM_139319.3(SLC17A8):c.*1496_*1497insT
Condition: Nonsyndromic Hearing Loss, Dominant [RCV000323840]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC17A8  
Variant Type: insertion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_021175.1:g.69577_69578insT
NC_000012.12:g.100421655_100421656insT
NC_000012.11:g.100815433_100815434insT
NM_001145288.2:c.*1496_*1497insT
NM_139319.3:c.*1496_*1497insT
NM_139319.2:c.*1496_*1497insT
Position
Human AssemblyChrPosition (strand)Source
GRCh3812100,421,655 - 100,421,656CLINVAR
GRCh3712100,815,433 - 100,815,434CLINVAR
Cytogenetic Map1212q23.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11655206
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.