Gene | PTCH1 |
Variant | missense |
Amino Acid Change | W844C |
DNA Change (Coding Nucleotide) | 2532G>C |
Transcript ID (GRCh37/hg19) | ENST00000331920 |
Codon | 844 |
Exon | 15 |
Genomic Coordinates (GRCh37/hg19) | 9:98229426-98229426 |
COSMIC ID | 96909 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
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The W844C mutation is associated with resistance to Vismodegib in basal cell carcinoma.