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

Variant : CV181521 (NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr)) Homo sapiens

Symbol: CV181521
Name: NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr)
Condition: Laband syndrome [RCV000190322]|Zimmermann-Laband syndrome 1 [RCV000190322]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: not provided
HGVS Name(s): NG_029777.1:g.219069C>A
NC_000001.11:g.210920047G>T
NC_000001.10:g.211093389G>T
NP_002229.1:p.Ser325Tyr
NP_758872.1:p.Ser352Tyr
NG_029777.2:g.219069C>A
NM_172362.3:c.1055C>A
NM_002238.4:c.974C>A
NM_002238.3:c.974C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,920,047 - 210,920,047CLINVAR
GRCh371211,093,389 - 211,093,389CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: Laband syndrome
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10395465
Created: 2015-09-08
Species: Homo sapiens
Last Modified: 2019-10-01
Status: ACTIVE



NHLBI Logo

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