NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile) AND Juvenile polyposis syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003335228.2
Allele description [Variation Report for NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)]
NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)
Condition(s)
-
Homo sapiens histocompatibility minor serpin domain containing (HMSD), mRNA
Homo sapiens histocompatibility minor serpin domain containing (HMSD), mRNAgi|1519311660|ref|NM_001123366.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023