Variant (rsID / SNP)

rs1046048

rs1046048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVR2B. Location: chromosome 3, position 38,524,742. Clinical significance in the table: Benign.

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Reference-table entries

ACVR2BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:38524742
Cytoband: 3p22.2
HGVS: NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=)
Allele change: Synonymous_N486N

Associated conditions / phenotypes

Heterotaxy, visceral, 4, autosomal

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.