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Variant (rsID / SNP)

rs797044959

ACTG2

rs797044959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTG2. Location: chromosome 2, position 74,141,963. 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
2:74141963
Cytoband
2p13.1
HGVS
NM_001615.4(ACTG2):c.770G>A (p.Arg257His)
Allele change
Missense_R257H

Associated conditions / phenotypes

Inborn genetic diseases|Megacystis|Chronic intestinal pseudoobstruction|Visceral myopathy|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.