Variant (rsID / SNP)

rs768290597

rs768290597 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTG2. Location: chromosome 2, position 74,129,825. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACTG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:74129825
Cytoband: 2p13.1
HGVS: NM_001615.4(ACTG2):c.255+210C>A
Allele change: Silent

Associated conditions / phenotypes

Visceral myopathy

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.