NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Breast carcinoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001572627.5
Allele description [Variation Report for NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)]
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
Condition(s)
- Name:
- Breast carcinoma
- Synonyms:
- Carcinoma of breast
- Identifiers:
- MONDO: MONDO:0004989; MedGen: C0678222; Human Phenotype Ontology: HP:0003002
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Homo sapiens zinc finger AN1-type containing 5 (ZFAND5), transcript variant e, m...
Homo sapiens zinc finger AN1-type containing 5 (ZFAND5), transcript variant e, mRNAgi|503774490|ref|NM_001278244.1|Nucleotide
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Escherichia coli DEC4C gecDEC4C.contig.19_1, whole genome shotgun sequence
Escherichia coli DEC4C gecDEC4C.contig.19_1, whole genome shotgun sequencegi|377946267|gb|AIFM01000020.1||gnl AIFM01|gecDEC4C.contig.19_1Nucleotide
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Homologene neighbors for GEO Profiles (Select 73830022) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 73830179) (200)
GEO Profiles
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Last Updated: Sep 1, 2024