Variant (rsID / SNP)
rs6330
rs6330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NGF. Location: chromosome 1, position 115,829,313. Clinical significance in the table: Benign.
Reference-table entries
NGFBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:115829313
- Cytoband
- 1p13.2
- HGVS
- NM_002506.3(NGF):c.104C>T (p.Ala35Val)
- Allele change
- Missense_A35V
Associated conditions / phenotypes
Congenital sensory neuropathy with selective loss of small myelinated fibers
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
