Variant (rsID / SNP)

rs148677674

rs148677674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LZTR1. Location: chromosome 22, position 21,349,277. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LZTR1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:21349277
Cytoband: 22q11.21
HGVS: NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
Allele change: Missense_P635L

Associated conditions / phenotypes

Noonan syndrome 10

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.