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Variant : CV19640 (NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter)) Homo sapiens

Symbol: CV19640
Name: NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter)
Condition: Acroerythrokeratoderma [RCV000004864]
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:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only
HGVS Name(s): NG_011494.1:g.6243C>T
NC_000008.11:g.142741169G>A
NC_000008.10:g.143822587G>A
NP_065160.1:p.Arg96Ter
NM_020427.3:c.286C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,741,169 - 142,741,169CLINVAR
GRCh378143,822,587 - 143,822,587CLINVAR
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: 8591617
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.