Variant (rsID / SNP)

rs148376598

rs148376598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGM6. Location: chromosome 20, position 2,381,057. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TGM6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:2381057
Cytoband: 20p13
HGVS: NM_198994.3(TGM6):c.956G>A (p.Arg319Gln)
Allele change: Missense_R319Q

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.