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Variant : CV172195 (NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg)) Homo sapiens

Symbol: CV172195
Name: NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg)
Condition: Temple-Baraitser syndrome [RCV000149912]
Clinical Significance: pathogenic
Last Evaluated: 01/22/2015
Review Status: classified by single submitter|no assertion criteria provided
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.334995A>G
NC_000001.11:g.210804121T>C
NC_000001.10:g.210977463T>C
NP_758872.1:p.Gln503Arg
O95259:p.Gln503Arg
NM_002238.4:c.1427A>G
NM_172362.3:c.1508A>G
NG_029777.2:g.334995A>G
NM_172362.2:c.1508A>G
NP_002229.1:p.Gln476Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,804,121 - 210,804,121CLINVAR
GRCh371210,977,463 - 210,977,463CLINVAR
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: 9691304
Created: 2015-02-10
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.