Variant (rsID / SNP)

rs138373837

rs138373837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NADK2. Location: chromosome 5, position 36,219,710. Clinical significance in the table: Benign.

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Reference-table entries

NADK2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:36219710
Cytoband: 5p13.2
HGVS: NM_001085411.3(NADK2):c.632G>A (p.Arg211His)
Allele change: Missense_R211H

Associated conditions / phenotypes

Progressive encephalopathy with leukodystrophy due to DECR deficiency

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.