Variant (rsID / SNP)

rs78001248

rs78001248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTG2. Location: chromosome 2, position 74,140,692. 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: 2:74140692
Cytoband: 2p13.1
HGVS: NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)
Allele change: Missense_R178C

Associated conditions / phenotypes

Visceral myopathy|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5

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.