Variant (rsID / SNP)

rs34457757

rs34457757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAL. Location: chromosome 12, position 96,380,932. Clinical significance in the table: association.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HALAssociation

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 12:96380932
Cytoband: 12q23.1
HGVS: NM_002108.4(HAL):c.964C>T (p.Arg322Ter)
Allele change: Nonsense_R322X

Associated conditions / phenotypes

Increased histidine

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.