Variant (rsID / SNP)

rs80356464

rs80356464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIX5. Location: chromosome 19, position 46,269,324. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SIX5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:46269324
Cytoband: 19q13.32
HGVS: NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)
Allele change: Missense_T552M

Associated conditions / phenotypes

Branchiootorenal syndrome 2

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.