Variant (rsID / SNP)
rs149617956
rs149617956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MITF. Location: chromosome 3, position 70,014,091. Clinical significance in the table: Pathogenic/Likely pathogenic; risk factor.
Reference-table entries
MITFPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:70014091
- Cytoband
- 3p13
- HGVS
- NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
- Allele change
- Missense_E419K
Associated conditions / phenotypes
Melanoma, cutaneous malignant, susceptibility to, 8|Hereditary cancer-predisposing syndrome|Waardenburg syndrome type 2A|Tietz syndrome|Melanoma, cutaneous malignant, susceptibility to, 8|Melanoma|Waardenburg syndrome type 2A|Melanoma, cutaneous malignant, susceptibility to, 8|Tietz syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.