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Variant : CV19644 (NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg)) Homo sapiens

Symbol: CV19644
Name: NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg)
Condition: Acroerythrokeratoderma [RCV000004868]
Clinical Significance: pathogenic
Last Evaluated: 08/29/2018
Review Status: classified by single submitter|criteria provided, 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.5069T>C
NC_000008.11:g.142742343A>G
NC_000008.10:g.143823761A>G
NP_065160.1:p.Trp15Arg
P55000:p.Trp15Arg
NM_020427.3:c.43T>C
NM_020427.2:c.43T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,742,343 - 142,742,343CLINVAR
GRCh378143,823,761 - 143,823,761CLINVAR
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: 8591620
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.