Variant (rsID / SNP)

rs119456966

rs119456966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIL1. Location: chromosome 5, position 138,282,880. Clinical significance in the table: Pathogenic.

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Reference-table entries

SIL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:138282880
Cytoband: 5q31.2
HGVS: NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)
Allele change: Nonsense_Q438X

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.