Variant (rsID / SNP)

rs150140314

rs150140314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARID1B. Location: chromosome 6, position 157,454,234. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ARID1BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:157454234
Cytoband: 6q25.3
HGVS: NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu)
Allele change: Missense_S802L

Associated conditions / phenotypes

History of neurodevelopmental disorder|Coffin-Siris syndrome 1

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.