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Article

BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.

American journal of medical genetics - 16 Jul 1999

Scholl T, Pyne M T, Russo D, Ward B E

Abstract excerpt

Results and conclusions are presented that characterize BRCA1 IVS16+6T-->C as a deleterious mutation. BRCA1 transcripts from peripheral blood mononuclear cells of a breast cancer patient with the transition IVS16+6T-->C show the loss of a heterozygous base within codon 871. Additionally, an aberrant RNA splicing product which incorporates 69 bases of the 5' end of intron 16 at the junction of exons 16 and 17 is...

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Share to Base Sequence
Share to BRCA1 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carcinoma, Medullary

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Source

Identifiers

PMID: 10406662

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.PMID 10406662Read ↗

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