Variant (rsID / SNP)

rs56223054

rs56223054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D4. Location: chromosome 13, position 75,900,510. Clinical significance in the table: Likely benign.

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Reference-table entries

TBC1D4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:75900510
Cytoband: 13q22.2
HGVS: NM_014832.5(TBC1D4):c.1856C>T (p.Pro619Leu)
Allele change: Missense_P619L

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.