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Variant : CV172196 (NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn)) Homo sapiens

Symbol: CV172196
Name: NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn)
Condition: Temple-Baraitser syndrome [RCV000149913]
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.119952G>C
NC_000001.11:g.211019164C>G
NC_000001.10:g.211192506C>G
NP_758872.1:p.Lys217Asn
O95259:p.Lys217Asn
NM_002238.4:c.651G>C
NM_172362.3:c.651G>C
NG_029777.2:g.119952G>C
NM_172362.2:c.651G>C
NP_002229.1:p.Lys217Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,019,164 - 211,019,164CLINVAR
GRCh371211,192,506 - 211,192,506CLINVAR
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: 9691305
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.