Variant (rsID / SNP)

rs55754687

rs55754687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MITF. Location: chromosome 3, position 70,005,712. Clinical significance in the table: Likely benign.

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Reference-table entries

MITFLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:70005712
Cytoband: 3p13
HGVS: NM_001354604.2(MITF):c.1031+31T>C
Allele change: Silent

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.