Variant (rsID / SNP)

rs150726175

rs150726175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NMNAT1. Location: chromosome 1, position 10,042,688. Clinical significance in the table: Pathogenic.

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Reference-table entries

NMNAT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:10042688
Cytoband: 1p36.22
HGVS: NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
Allele change: Missense_E257K

Associated conditions / phenotypes

Leber congenital amaurosis 9|Leber congenital amaurosis|7 conditions|Retinal dystrophy

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.