Variant (rsID / SNP)

rs121434590

rs121434590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH8. Location: chromosome 17, position 10,310,241. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYH8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:10310241
Cytoband: 17p13.1
HGVS: NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)
Allele change: Silent

Associated conditions / phenotypes

Carney complex - trismus - pseudocamptodactyly syndrome|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.