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Variant : CV328740 (NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala)) Homo sapiens

Symbol: CV328740
Name: NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala)
Condition: Nonsyndromic Hearing Loss, Dominant [RCV000398240]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC17A8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_021175.1:g.28639A>G
NC_000012.12:g.100380717A>G
NC_000012.11:g.100774495A>G
NP_647480.1:p.Thr40Ala
NM_139319.3:c.118A>G
NM_139319.2:c.118A>G
NP_001138760.1:p.Thr40Ala
NM_001145288.2:c.118A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh3812100,380,717 - 100,380,717CLINVAR
GRCh3712100,774,495 - 100,774,495CLINVAR
Cytogenetic Map1212q23.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11625409
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.