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

Variant : CV552406 (NM_001110219.3(GJB6):c.487del (p.Leu163fs)) Homo sapiens

Symbol: CV552406
Name: NM_001110219.3(GJB6):c.487del (p.Leu163fs)
Condition: Nonsyndromic hearing loss [RCV000680442]
Clinical Significance: likely pathogenic
Last Evaluated: 03/10/2018
Review Status: criteria provided, single submitter
Related Genes: GJB6  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NP_001103689.1:p.Leu163fs
NP_001103690.1:p.Leu163fs
NP_001103691.1:p.Leu163fs
NP_001357019.1:p.Leu163fs
NP_006774.2:p.Leu163fs
NM_001110221.2:c.487del
NM_001370090.1:c.487del
NM_001370091.1:c.487del
NM_001370092.1:c.487del
NM_006783.4:c.487del
NP_001357020.1:p.Leu163fs
NG_008323.1:g.14402del
NM_001110219.3:c.487del
NM_001110220.2:c.487del
NC_000013.11:g.20222995del
NC_000013.10:g.20797134del
NP_001357021.1:p.Leu163fs
NM_006783.4:c.487delC
Position
Human AssemblyChrPosition (strand)Source
GRCh381320,222,994 - 20,222,994CLINVAR
GRCh371320,797,133 - 20,797,133CLINVAR
Cytogenetic Map1313q12.11CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13796438
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

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