WebOct 21, 2024 · NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=) Gene: PTCH1:patched 1 [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 9q22.32 ... Invitae: criteria provided, single submitter. Invitae Variant Classification Sherloc (09022015) Likely benign (Oct 21, 2024) WebList of variants in gene PTCH1 reported by Invitae. Minimum submission review status: Collection method: Minimum conflict level: Report conflict between different conditions ...
Everything You Need to Know About PTCH1 Everyday Health
WebTest Description. CancerNext analyzes 36 genes (listed above). These genes (excluding EPCAM and GREM1) are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. For POLD1 and POLE, only missense and in-frame indel ... WebFeb 4, 2024 · A PTCH1 mutation is associated with Gorlin syndrome, which increases your risk for developing basal cell skin cancer. Everything You Need to Know About PTCH1 … jelena jojić madam
VCV000453871.5 - ClinVar - NCBI
WebSep 17, 2024 · Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PTCH1 protein function. WebFeb 7, 2024 · PTCH1: Sufficient evidence for dosage pathogenicity: No evidence available: GRCh38 GRCh37: 3514: 4240: Submitted interpretations and evidence Help. Interpretation (Last evaluated) Review status (Assertion criteria) ... (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing. WebThe PTCH1 gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554). There is also evidence suggesting … lahocup 2022