NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002376977.2
Allele description [Variation Report for NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile)]
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
donkey (0)
Protein Family Models
-
Homo sapiens protein tyrosine phosphatase, receptor type, K, mRNA (cDNA clone MG...
Homo sapiens protein tyrosine phosphatase, receptor type, K, mRNA (cDNA clone MGC:176452 IMAGE:9021643), complete cdsgi|187954602|gb|BC140775.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024