Variant (rsID / SNP)

rs376044849

rs376044849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAI1. Location: chromosome 17, position 17,699,543. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAI1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:17699543
Cytoband: 17p11.2
HGVS: NM_030665.4(RAI1):c.3281C>A (p.Ser1094Ter)
Allele change: Missense_S1094L

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.