Variant (rsID / SNP)

rs145621219

rs145621219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBA8. Location: chromosome 22, position 18,609,493. Clinical significance in the table: Benign.

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Reference-table entries

TUBA8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:18609493
Cytoband: 22q11.21
HGVS: NM_018943.3(TUBA8):c.748G>A (p.Val250Met)
Allele change: Missense_V250M

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.