Variant (rsID / SNP)

rs61745568

rs61745568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIL1. Location: chromosome 5, position 138,378,368. Clinical significance in the table: Benign.

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Reference-table entries

SIL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:138378368
Cytoband: 5q31.2
HGVS: NM_022464.5(SIL1):c.394A>C (p.Lys132Gln)
Allele change: Missense_K132Q

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.