Variant (rsID / SNP)

rs760023

rs760023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11, NDE1. Location: chromosome 16, position 15,819,055. Clinical significance in the table: Benign.

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Reference-table entries

MYH11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:15819055
Cytoband: 16p13.11
HGVS: NM_017668.3(NDE1):c.*947G>A
Allele change: Silent

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 4|Lissencephaly, Recessive|Lissencephaly 4

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.