Variant (rsID / SNP)

rs7970524

rs7970524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAL. Location: chromosome 12, position 96,390,152. Clinical significance in the table: Likely benign.

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Reference-table entries

HALLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:96390152
Cytoband: 12q23.1
HGVS: NM_002108.3(HAL):c.-378A>G

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.