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Variant : CV328754 (NM_139319.3(SLC17A8):c.1631_1633AGA[1] (p.Lys545del)) Homo sapiens

Symbol: CV328754
Name: NM_139319.3(SLC17A8):c.1631_1633AGA[1] (p.Lys545del)
Condition: Nonsyndromic Hearing Loss, Dominant [RCV000304875]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC17A8  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NM_139319.3:c.1631_1633AGA[1]
NG_021175.1:g.67942_67944AGA[1]
NC_000012.12:g.100420020_100420022AGA[1]
NC_000012.11:g.100813798_100813800AGA[1]
NM_139319.2:c.1634_1636delAGA
NP_001138760.1:p.Lys495del
NP_647480.1:p.Lys545del
NM_001145288.2:c.1481_1483AGA[1]
Position
Human AssemblyChrPosition (strand)Source
GRCh3812100,420,023 - 100,420,025CLINVAR
GRCh3712100,813,801 - 100,813,803CLINVAR
Cytogenetic Map1212q23.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11652457
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.