Variant (rsID / SNP)

rs138613460

rs138613460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NMNAT1. Location: chromosome 1, position 10,032,168. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NMNAT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:10032168
Cytoband: 1p36.22
HGVS: NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)
Allele change: Missense_A13T

Associated conditions / phenotypes

Retinal dystrophy|Leber congenital amaurosis 9

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.