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Variant : CV294822 (NM_147196.2(TMIE):c.366_368del (p.Asp122_Lys123delinsGlu)) Homo sapiens

Symbol: CV294822
Name: NM_147196.2(TMIE):c.366_368del (p.Asp122_Lys123delinsGlu)
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000269866]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: deletion (SO:0001820)
Source: CLINVAR
Molecular Consequence: inframe_indel|inframe_variant
Evidence: clinical testing
HGVS Name(s): NP_671729.2:p.Asp122_Lys123delinsGlu
NM_001370524.1:c.207_209del
NM_001370525.1:c.207_209del
NM_147196.2:c.366_368del
NC_000003.11:g.46751073_46751075del
NG_011628.1:g.13251_13253del
NC_000003.12:g.46709583_46709585del
NP_001357453.1:p.Asp69_Lys70delinsGlu
NP_001357454.1:p.Asp69_Lys70delinsGlu
NM_147196.2:c.366_368delTAA
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,709,582 - 46,709,584CLINVAR
GRCh37346,751,072 - 46,751,074CLINVAR
Cytogenetic Map33p21.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11646288
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.