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

Variant : CV443392 (NM_000412.4(HRG):c.99del (p.Ala34fs)) Homo sapiens

Symbol: CV443392
Name: NM_000412.4(HRG):c.99del (p.Ala34fs)
Condition: not specified [RCV000518881]
Clinical Significance: conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 04/24/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: HRG  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_000412.3:c.99delA
LRG_601p1:p.Ala34fs
LRG_601:g.10915del
LRG_601t1:c.99del
NM_000412.4:c.99del
NG_021485.2:g.10915del
NC_000003.12:g.186666130del
NC_000003.11:g.186383919del
NP_000403.1:p.Ala34fs
NM_000412.4:c.99delA
Position
Human AssemblyChrPosition (strand)Source
GRCh383186,666,130 - 186,666,130CLINVAR
GRCh373186,383,919 - 186,383,919CLINVAR
Cytogenetic Map33q27.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13471523
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

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