Variant (rsID / SNP)

rs104894436

rs104894436 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCH1. Location: chromosome 14, position 55,312,526. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GCH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:55312526
Cytoband: 14q22.2
HGVS: NM_000161.3(GCH1):c.586G>T (p.Ala196Ser)
Allele change: Missense_A196S

Associated conditions / phenotypes

Dystonia 5

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.