Variant (rsID / SNP)

rs141215006

rs141215006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH8. Location: chromosome 17, position 10,296,261. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:10296261
Cytoband: 17p13.1
HGVS: NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)
Allele change: Silent

Associated conditions / phenotypes

Inborn genetic diseases|Hecht syndrome

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.