Variant (rsID / SNP)

rs183670042

rs183670042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM6. Location: chromosome 20, position 2,384,093. Clinical significance in the table: Benign.

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Reference-table entries

TGM6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:2384093
Cytoband: 20p13
HGVS: NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu)
Allele change: Missense_P347L

Associated conditions / phenotypes

Spinocerebellar ataxia type 35

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.