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Variant : CV304464 (NM_020427.3(SLURP1):c.-7C>T) Homo sapiens

Symbol: CV304464
Name: NM_020427.3(SLURP1):c.-7C>T
Condition: Acroerythrokeratoderma [RCV000363306]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLURP1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_011494.1:g.5020C>T
NC_000008.11:g.142742392G>A
NC_000008.10:g.143823810G>A
NM_020427.3:c.-7C>T
NM_020427.2:c.-7C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,742,392 - 142,742,392CLINVAR
GRCh378143,823,810 - 143,823,810CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS; Mal de Meleda
Age Of Onset: childhood
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11609059
Created: 2017-01-11
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.