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Variant : CV582978 (NM_172362.3(KCNH1):c.675G>T (p.Leu225Phe)) Homo sapiens

Symbol: CV582978
Name: NM_172362.3(KCNH1):c.675G>T (p.Leu225Phe)
Condition: not provided [RCV000723172]
Clinical Significance: uncertain significance
Last Evaluated: 09/16/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NC_000001.11:g.211019140C>A
NC_000001.10:g.211192482C>A
NG_029777.1:g.119976G>T
NP_758872.1:p.Leu225Phe
NM_172362.3:c.675G>T
NM_002238.4:c.675G>T
NG_029777.2:g.119976G>T
NP_002229.1:p.Leu225Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,019,140 - 211,019,140CLINVAR
GRCh371211,192,482 - 211,192,482CLINVAR
Cytogenetic Map11q32.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13832483
Created: 2019-01-08
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.