Variant (rsID / SNP)

rs138110910

rs138110910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,883,004. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYH7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23883004
Cytoband: 14q11.2
HGVS: NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys)
Allele change: Synonymous_N1918N

Associated conditions / phenotypes

Left ventricular noncompaction 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.