Variant (rsID / SNP)

rs387907144

rs387907144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARID1B. Location: chromosome 6, position 157,502,190. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARID1BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:157502190
Cytoband: 6q25.3
HGVS: NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)
Allele change: Nonsense_R1115X

Associated conditions / phenotypes

Coffin-Siris syndrome 1|Inborn genetic diseases|ARID1B-related BAFopathy

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.