Variant (rsID / SNP)

rs112518314

rs112518314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRPL12. Location: chromosome 17, position 79,671,332. Clinical significance in the table: Benign.

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Reference-table entries

MRPL12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:79671332
Cytoband: 17q25.3
HGVS: NM_002949.4(MRPL12):c.133T>C (p.Cys45Arg)
Allele change: Missense_C45R

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.