Variant (rsID / SNP)

rs11466112

rs11466112 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NGF. Location: chromosome 1, position 115,828,756. Clinical significance in the table: Pathogenic.

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Reference-table entries

NGFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:115828756
Cytoband: 1p13.2
HGVS: NM_002506.3(NGF):c.661C>T (p.Arg221Trp)
Allele change: Missense_R221W

Associated conditions / phenotypes

Congenital sensory neuropathy with selective loss of small myelinated fibers

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.