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PTCH1 W844C
GenePTCH1
Variantmissense
Amino Acid ChangeW844C
DNA Change (Coding Nucleotide)2532G>C
Transcript ID (GRCh37/hg19)ENST00000331920
Codon844
Exon15
Genomic Coordinates (GRCh37/hg19)9:98229426-98229426
COSMIC ID96909
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 1
PTCH1
Variants
PTCH1 W844C
Primary Sites
Skin
Tumor Types
Basal Cell Carcinoma
Interpretation

The W844C mutation is associated with resistance to Vismodegib in basal cell carcinoma.

Last updated: 2017-01-20 03:36:39 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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