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Variant : CV181517 (NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)) Homo sapiens

Symbol: CV181517
Name: NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)
Condition: Inborn genetic diseases [RCV000623955]|Laband syndrome [RCV000190321]|Zimmermann-Laband syndrome 1 [RCV000190321]|not provided [RCV000498687]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 01/09/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only|not provided|research
HGVS Name(s): NG_029777.1:g.334973G>A
NC_000001.11:g.210804143C>T
NC_000001.10:g.210977485C>T
NP_002229.1:p.Gly469Arg
NP_758872.1:p.Gly496Arg
NG_029777.2:g.334973G>A
NM_002238.3:c.1405G>A
NM_172362.2:c.1486G>A
NM_002238.4:c.1405G>A
NM_172362.3:c.1486G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,804,143 - 210,804,143CLINVAR
GRCh371210,977,485 - 210,977,485CLINVAR
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: 10395464
Created: 2015-09-08
Species: Homo sapiens
Last Modified: 2019-10-08
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.