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

Variant : CV200710 (NM_024741.3(ZNF408):c.359_360TG[2] (p.Ala122fs)) Homo sapiens

Symbol: CV200710
Name: NM_024741.3(ZNF408):c.359_360TG[2] (p.Ala122fs)
Condition: RETINITIS PIGMENTOSA 72 [RCV000186511]|Retinitis pigmentosa 72 [RCV000186511]
Clinical Significance: pathogenic
Last Evaluated: 07/21/2015
Review Status: no assertion criteria provided
Related Genes: ZNF408  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NM_024741.2:c.363_364deTG
NM_024741.2:c.358_359delGT
NM_001184751.2:c.335_336TG[2]
NG_052967.1:g.6966_6967TG[2]
NC_000011.10:g.46702732_46702733TG[2]
NM_024741.3:c.359_360TG[2]
NC_000011.9:g.46724282_46724283TG[2]
NM_024741.2:c.363_364del
NP_079017.1:p.Ala122fs
NP_001171680.1:p.Ala114fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381146,702,736 - 46,702,737CLINVAR
GRCh371146,724,286 - 46,724,287CLINVAR
Cytogenetic Map1111p11.2CLINVAR
Age Of Onset: adolescent|childhood
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10054581
Created: 2015-08-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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