Variant (rsID / SNP)

rs121434437

rs121434437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVR2B. Location: chromosome 3, position 38,518,844. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ACVR2BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:38518844
Cytoband: 3p22.2
HGVS: NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)
Allele change: Missense_R40H

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.