Variant (rsID / SNP)

rs142712751

rs142712751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,550,550. The table records no clinical significance for this variant.

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Reference-table entries

NF1Not classified

Variant type: single nucleotide variant
Chromosome / position: 17:29550550
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.1810T>G (p.Leu604Val)
Allele change: Synonymous_L604L

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.