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Variant : CV313232 (NM_020427.3(SLURP1):c.261C>T (p.Ala87=)) Homo sapiens

Symbol: CV313232
Name: NM_020427.3(SLURP1):c.261C>T (p.Ala87=)
Condition: Acroerythrokeratoderma [RCV000348797]|not provided [RCV000962361]
Clinical Significance: benign|likely benign
Last Evaluated: 06/22/2018
Review Status: criteria provided, single submitter
Related Genes: SLURP1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_011494.1:g.6218C>T
NC_000008.11:g.142741194G>A
NC_000008.10:g.143822612G>A
NP_065160.1:p.Ala87=
NM_020427.3:c.261C>T
NM_020427.2:c.261C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,741,194 - 142,741,194CLINVAR
GRCh378143,822,612 - 143,822,612CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS; Mal de Meleda
Age Of Onset: childhood
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11607920
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-03-31
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.