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

Variant : CV578375 (NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)) Homo sapiens

Symbol: CV578375
Name: NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)
Condition: Temple-Baraitser syndrome [RCV000714601]|Zimmermann-Laband syndrome 1 [RCV000714600]
Clinical Significance: uncertain significance
Last Evaluated: 08/07/2018
Review Status: criteria provided, single submitter
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_029777.1:g.219048G>C
NC_000001.11:g.210920068C>G
NC_000001.10:g.211093410C>G
NP_758872.1:p.Gly345Ala
NM_172362.3:c.1034G>C
NM_172362.2:c.1034G>C
NP_002229.1:p.Gly318Ala
NM_002238.4:c.953G>C
NG_029777.2:g.219048G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,920,068 - 210,920,068CLINVAR
GRCh371211,093,410 - 211,093,410CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: Laband syndrome; MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13827527
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

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