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Variant (rsID / SNP)

rs869320686

LZTR1

rs869320686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LZTR1. Location: chromosome 22, position 21,344,765. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LZTR1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:21344765
Cytoband
22q11.21
HGVS
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
Allele change
Missense_G248R

Associated conditions / phenotypes

Noonan syndrome 10|Inborn genetic diseases|Noonan syndrome 10|Schwannomatosis 2|RASopathy|Fetal cystic hygroma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.