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Variant : CV181518 (NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)) Homo sapiens

Symbol: CV181518
Name: NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)
Condition: Laband syndrome [RCV000190320]|Zimmermann-Laband syndrome 1 [RCV000190320]
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.219161G>C
NC_000001.11:g.210919955C>G
NC_000001.10:g.211093297C>G
NP_002229.1:p.Val356Leu
NP_758872.1:p.Val383Leu
NM_002238.4:c.1066G>C
NM_172362.3:c.1147G>C
NM_002238.3:c.1066G>C
NG_029777.2:g.219161G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,919,955 - 210,919,955CLINVAR
GRCh371211,093,297 - 211,093,297CLINVAR
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: 10395463
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.