Variant (rsID / SNP)

rs141648576

rs141648576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D20. Location: chromosome 20, position 419,299. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TBC1D20Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 20:419299
Cytoband: 20p13
HGVS: NM_144628.4(TBC1D20):c.1143G>A (p.Ala381=)
Allele change: Synonymous_A381A

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.