NM_007294.4(BRCA1):c.2728del (p.Gln910fs) AND Breast-ovarian cancer, familial 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Sep 8, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000241323.2
Allele description
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
Condition(s)
- Name:
- Breast-ovarian cancer, familial 1 (BROVCA1)
- Synonyms:
- BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370
-
UGT2B4 (396)
dbVar
-
enoyl-CoA hydratase EchA8 [Mycobacterium tuberculosis TB_RSA165]
enoyl-CoA hydratase EchA8 [Mycobacterium tuberculosis TB_RSA165]gi|626400771|gb|KCL36581.1||gnl|WGS |W075_03519T0Protein
-
Homo sapiens stomatin (STOM), transcript variant 2, mRNA
Homo sapiens stomatin (STOM), transcript variant 2, mRNAgi|1676318853|ref|NM_198194.3|Nucleotide
-
Eubrownia isobilateralis strain SAG 95.80 18S ribosomal RNA gene, partial sequen...
Eubrownia isobilateralis strain SAG 95.80 18S ribosomal RNA gene, partial sequencegi|375334216|gb|JN903996.1|Nucleotide
-
nectin-1 isoform 1 precursor [Homo sapiens]
nectin-1 isoform 1 precursor [Homo sapiens]gi|42560237|ref|NP_002846.3|Protein
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Last Updated: Sep 23, 2021