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Variant : CV172193 (NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)) Homo sapiens

Symbol: CV172193
Name: NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)
Condition: Laband syndrome [RCV000185590]|Temple-Baraitser syndrome [RCV000149910]|Zimmermann-Laband syndrome 1 [RCV000185590]|Zimmermann-Laband syndrome 1 [RCV000677640]
Clinical Significance: pathogenic|not provided
Last Evaluated: 08/04/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided|not classified by submitter
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NG_029777.1:g.334967A>G
NC_000001.11:g.210804149T>C
NC_000001.10:g.210977491T>C
NP_758872.1:p.Ile494Val
O95259:p.Ile494Val
NP_002229.1:p.Ile467Val
NM_002238.4:c.1399A>G
NM_172362.3:c.1480A>G
NG_029777.2:g.334967A>G
NM_172362.2:c.1480A>G
NP_002229.1:p.Ile467Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,804,149 - 210,804,149CLINVAR
GRCh371210,977,491 - 210,977,491CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: Laband syndrome; MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX; Temple-Baraitser 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: 9691302
Created: 2015-02-10
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.