Variant (rsID / SNP)

rs80189640

rs80189640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D7. Location: chromosome 6, position 13,316,909. Clinical significance in the table: Likely benign.

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Reference-table entries

TBC1D7Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:13316909
Cytoband: 6p24.1
HGVS: NM_016495.6(TBC1D7):c.413C>A (p.Ala138Asp)
Allele change: Missense_A138D

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.