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Variant : CV294816 (NM_147196.2(TMIE):c.144A>G (p.Thr48=)) Homo sapiens

Symbol: CV294816
Name: NM_147196.2(TMIE):c.144A>G (p.Thr48=)
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000309816]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_147196.2:c.144A>G
NG_011628.1:g.9508A>G
NC_000003.12:g.46705840A>G
NC_000003.11:g.46747330A>G
NP_671729.2:p.Thr48=
NM_001370524.1:c.-16A>G
NM_001370525.1:c.-16A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,705,840 - 46,705,840CLINVAR
GRCh37346,747,330 - 46,747,330CLINVAR
Cytogenetic Map33p21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11653268
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-02-11
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.