Variant (rsID / SNP)

rs786205435

rs786205435 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,826,474. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYH11Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:15826474
Cytoband: 16p13.11
HGVS: NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter)
Allele change: Nonsense_K1200X

Associated conditions / phenotypes

Visceral myopathy|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2

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.