Variant (rsID / SNP)

rs117812409

rs117812409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TIMM44. Location: chromosome 19, position 8,003,021. Clinical significance in the table: Benign.

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Reference-table entries

TIMM44Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:8003021
Cytoband: 19p13.2
HGVS: NM_006351.4(TIMM44):c.203A>G (p.Lys68Arg)
Allele change: Missense_K68R

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.