Variant (rsID / SNP)
rs104893746
rs104893746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MITF. Location: chromosome 3, position 70,005,611. Clinical significance in the table: Pathogenic.
Reference-table entries
MITFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:70005611
- Cytoband
- 3p13
- HGVS
- NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)
- Allele change
- Nonsense_R315X
Associated conditions / phenotypes
Waardenburg syndrome type 2A|Hearing impairment|Heterochromia iridis|Prelingual sensorineural hearing impairment|Poliosis|Ear malformation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.