Variant (rsID / SNP)

rs202003795

rs202003795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIKESHI. Location: chromosome 11, position 86,017,416. Clinical significance in the table: Pathogenic.

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Reference-table entries

HIKESHIPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:86017416
Cytoband: 11q14.2
HGVS: NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)
Allele change: Silent

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 13

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.