Variant (rsID / SNP)

rs199890503

rs199890503 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIL1. Location: chromosome 5, position 138,283,025. 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: 5:138283025
Cytoband: 5q31.2
HGVS: NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
Allele change: Synonymous_P389P

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.