Variant (rsID / SNP)

rs115800498

rs115800498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIL1. Location: chromosome 5, position 138,378,394. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SIL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:138378394
Cytoband: 5q31.2
HGVS: NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
Allele change: Missense_T123I

Associated conditions / phenotypes

Marinesco-SjÃ¶gren syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.