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Variant : CV511216 (NM_172362.3(KCNH1):c.1505T>C (p.Phe502Ser)) Homo sapiens

Symbol: CV511216
Name: NM_172362.3(KCNH1):c.1505T>C (p.Phe502Ser)
Condition: Inborn genetic diseases [RCV000622975]
Clinical Significance: uncertain significance
Last Evaluated: 08/07/2017
Review Status: criteria provided, single submitter
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_029777.1:g.334992T>C
NC_000001.11:g.210804124A>G
NC_000001.10:g.210977466A>G
NP_758872.1:p.Phe502Ser
NM_002238.4:c.1424T>C
NM_172362.3:c.1505T>C
NG_029777.2:g.334992T>C
NM_172362.2:c.1505T>C
NP_002229.1:p.Phe475Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,804,124 - 210,804,124CLINVAR
GRCh371210,977,466 - 210,977,466CLINVAR
Cytogenetic Map11q32.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13531019
Created: 2018-05-08
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.