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

Variant : CV294829 (NM_147196.2(TMIE):c.*1000C>T) Homo sapiens

Symbol: CV294829
Name: NM_147196.2(TMIE):c.*1000C>T
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000345262]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_147196.2:c.*1000C>T
NG_011628.1:g.14356C>T
NC_000003.12:g.46710688C>T
NC_000003.11:g.46752178C>T
NM_001370524.1:c.*1000C>T
NM_001370525.1:c.*1000C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,710,688 - 46,710,688CLINVAR
GRCh37346,752,178 - 46,752,178CLINVAR
Cytogenetic Map33p21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11657951
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



NHLBI Logo

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