Variant (rsID / SNP)

rs121434328

rs121434328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAL. Location: chromosome 12, position 96,386,550. Clinical significance in the table: Affects.

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Reference-table entries

HALOther

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 12:96386550
Cytoband: 12q23.1
HGVS: NM_002108.4(HAL):c.623G>T (p.Arg208Leu)
Allele change: Missense_R208L

Associated conditions / phenotypes

Histidinemia

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.