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

Variant : CV18432 (NM_147196.2(TMIE):c.94-2_98delinsC) Homo sapiens

Symbol: CV18432
Name: NM_147196.2(TMIE):c.94-2_98delinsC
Condition: Deafness, autosomal recessive 6 [RCV000003560]
Clinical Significance: pathogenic
Last Evaluated: 06/03/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: TMIE  
Variant Type: indel (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: literature only
HGVS Name(s): NM_147196.2:c.94-2_98delAGCCCAGinsC
NC_000003.12:g.46705788_46705794delAGCCCAGinsC
NM_001370525.1:c.-68_-62delinsC
NM_147196.2:c.94-2_98delinsC
NG_011628.1:g.9456_9462delinsC
NC_000003.12:g.46705788_46705794delinsC
NC_000003.11:g.46747278_46747284delinsC
NM_001370524.1:c.-68_-62delinsC
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,705,788 - 46,705,794CLINVAR
GRCh37346,747,278 - 46,747,284CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6
Age Of Onset: neonatal/infancy



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8557395
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE



NHLBI Logo

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