Variant (rsID / SNP)

rs121912678

rs121912678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVR1. Location: chromosome 2, position 158,630,626. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACVR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:158630626
Cytoband: 2q24.1
HGVS: NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
Allele change: Missense_R206H

Associated conditions / phenotypes

Progressive myositis ossificans|Inborn genetic diseases|Epicanthal fold

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.