Variant (rsID / SNP)

rs137904015

rs137904015 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MITF. Location: chromosome 3, position 70,014,000. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MITFBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:70014000
Cytoband: 3p13
HGVS: NM_001354604.2(MITF):c.1182A>G (p.Glu394=)
Allele change: Synonymous_E388E

Associated conditions / phenotypes

Waardenburg syndrome type 2A|Tietz syndrome

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.