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Variant : CV181519 (NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)) Homo sapiens

Symbol: CV181519
Name: NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)
Condition: Laband syndrome [RCV000185592]|Zimmermann-Laband syndrome 1 [RCV000185592]
Clinical Significance: pathogenic
Last Evaluated: 07/08/2015
Review Status: no assertion criteria provided
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|not provided
HGVS Name(s): NG_029777.1:g.219149C>G
NC_000001.11:g.210919967G>C
NC_000001.10:g.211093309G>C
NP_002229.1:p.Leu352Val
NP_758872.1:p.Leu379Val
NM_172362.3:c.1135C>G
NG_029777.2:g.219149C>G
NM_002238.3:c.1054C>G
NM_002238.4:c.1054C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,919,967 - 210,919,967CLINVAR
GRCh371211,093,309 - 211,093,309CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: Laband syndrome
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10056108
Created: 2015-08-11
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE



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