NM_000465.4(BARD1):c.730dup (p.Ser244fs) AND Familial cancer of breast
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003334559.2
Allele description [Variation Report for NM_000465.4(BARD1):c.730dup (p.Ser244fs)]
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
Condition(s)
-
Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA
Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNAgi|24308455|ref|NM_153702.1|Nucleotide
-
Chain T, Leydig cell tumor 10 kDa protein homolog
Chain T, Leydig cell tumor 10 kDa protein homologgi|2559883585|pdb|8INF|TProtein
-
Chain U, 60S ribosomal protein L15
Chain U, 60S ribosomal protein L15gi|2559883559|pdb|8INF|UProtein
-
Chain M, 60S ribosomal protein L37
Chain M, 60S ribosomal protein L37gi|2559883553|pdb|8INF|MProtein
-
Chain 8, 5.8S rRNA
Chain 8, 5.8S rRNAgi|2559883588|pdb|8INF|8Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024