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Variant : CV295225 (NM_147196.2(TMIE):c.*612C>T) Homo sapiens

Symbol: CV295225
Name: NM_147196.2(TMIE):c.*612C>T
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000374073]
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.*612C>T
NG_011628.1:g.13968C>T
NC_000003.12:g.46710300C>T
NC_000003.11:g.46751790C>T
NM_001370524.1:c.*612C>T
NM_001370525.1:c.*612C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,710,300 - 46,710,300CLINVAR
GRCh37346,751,790 - 46,751,790CLINVAR
Cytogenetic Map33p21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11595758
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-02-20
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.