NM_000057.4(BLM):c.1012T>C (p.Ser338Pro) AND Bloom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003881437.2
Allele description [Variation Report for NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)]
NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)
Condition(s)
-
PREDICTED: Cucumis sativus transcription factor HEC3 (LOC101222266), mRNA
PREDICTED: Cucumis sativus transcription factor HEC3 (LOC101222266), mRNAgi|1784885224|ref|XM_004148600.3|Nucleotide
-
Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system...
Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 7, mRNA (cDNA clone MGC:1534 IMAGE:3504357), complete cdsgi|33872606|gb|BC003062.2|Nucleotide
-
609130 (1)
OMIM
-
TCAAP4E0580 Pediatric acute myelogenous leukemia cell (FAB M1) Baylor-HGSC proje...
TCAAP4E0580 Pediatric acute myelogenous leukemia cell (FAB M1) Baylor-HGSC project=TCAA Homo sapiens cDNA clone TCAAP0580, mRNA sequencegi|9095065|gnl|dbEST|5270464|gb|BE2 .1|Nucleotide
-
Vacuolar protein sorting 45 (yeast) [Mus musculus]
Vacuolar protein sorting 45 (yeast) [Mus musculus]gi|35193241|gb|AAH58528.1|Protein
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Last Updated: Sep 29, 2024