Variant (rsID / SNP)

rs201562272

rs201562272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to A2ML1. Location: chromosome 12, position 9,004,550. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

A2ML1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:9004550
Cytoband: 12p13.31
HGVS: NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
Allele change: Missense_R802H

Associated conditions / phenotypes

Noonan 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.