Variant (rsID / SNP)

rs165602

rs165602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFH. Location: chromosome 22, position 29,886,043. Clinical significance in the table: Benign.

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Reference-table entries

NEFHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:29886043
Cytoband: 22q12.2
HGVS: NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)
Allele change: Missense_E805A

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 1|Charcot-Marie-Tooth disease axonal type 2CC

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.