Variant (rsID / SNP)

rs76994389

rs76994389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARID2. Location: chromosome 12, position 46,243,365. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ARID2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:46243365
Cytoband: 12q12
HGVS: NM_152641.4(ARID2):c.1718C>T (p.Thr573Met)
Allele change: Missense_T573M

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.