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Variant : CV19642 (NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg)) Homo sapiens

Symbol: CV19642
Name: NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg)
Condition: Acroerythrokeratoderma [RCV000004866]
Clinical Significance: pathogenic
Last Evaluated: 09/27/2006
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SLURP1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): NG_011494.1:g.6213G>C
NC_000008.11:g.142741199C>G
NC_000008.10:g.143822617C>G
NP_065160.1:p.Gly86Arg
P55000:p.Gly86Arg
NM_020427.3:c.256G>C
NM_020427.2:c.256G>C
NP_065160.1:p.Gly86Arg
NP_065160.1:p.Gly86Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,741,199 - 142,741,199CLINVAR
GRCh378143,822,617 - 143,822,617CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS; Mal de Meleda
Age Of Onset: childhood|neonatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8591619
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.