Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV57048 (NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)) Homo sapiens

Symbol: CV57048
Name: NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)
Condition: AllHighlyPenetrant [RCV000041154]|Nonsyndromic Hearing Loss, Dominant [RCV000336046]|not specified [RCV000041154]
Clinical Significance: benign|likely benign
Last Evaluated: 01/15/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: SLC17A8  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): c.54G>A
p.Lys18Lys
NG_021175.1:g.5367G>A
NC_000012.12:g.100357445G>A
NC_000012.11:g.100751223G>A
NP_647480.1:p.Lys18=
NP_001138760.1:p.Lys18=
NM_001145288.2:c.54G>A
NM_139319.2:c.54G>A
NM_139319.3:c.54G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3812100,357,445 - 100,357,445CLINVAR
GRCh3712100,751,223 - 100,751,223CLINVAR
Cytogenetic Map1212q23.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8610750
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.