Variant (rsID / SNP)

rs140562514

rs140562514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH8. Location: chromosome 17, position 10,301,897. 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: 17:10301897
Cytoband: 17p13.1
HGVS: NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)
Allele change: Silent

Associated conditions / phenotypes

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.