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Variant : CV172194 (NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe)) Homo sapiens

Symbol: CV172194
Name: NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe)
Condition: Temple-Baraitser syndrome [RCV000149911]
Clinical Significance: pathogenic|not provided
Last Evaluated: 03/09/2015
Review Status: classified by 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: literature only
HGVS Name(s): NG_029777.1:g.335033C>T
NC_000001.11:g.210804083G>A
NC_000001.10:g.210977425G>A
NP_758872.1:p.Leu516Phe
NM_002238.4:c.1465C>T
NM_172362.3:c.1546C>T
NG_029777.2:g.335033C>T
NP_002229.1:p.Leu489Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,804,083 - 210,804,083CLINVAR
GRCh371210,977,425 - 210,977,425CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9691303
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.