NM_004329.3(BMPR1A):c.402G>C (p.Leu134Phe) AND Juvenile polyposis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001885244.3
Allele description [Variation Report for NM_004329.3(BMPR1A):c.402G>C (p.Leu134Phe)]
NM_004329.3(BMPR1A):c.402G>C (p.Leu134Phe)
Condition(s)
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Escherichia sp. L578-3-1 NODE_147_length_247_cov_269.552941, whole genome shotgu...
Escherichia sp. L578-3-1 NODE_147_length_247_cov_269.552941, whole genome shotgun sequencegi|2676633370|ref|NZ_JAYQWL01000014 gnl|WGS:NZ_JAYQWL01|NODE_147_length_247_cov_269.552941Nucleotide
-
Escherichia sp. L578-3-1 NODE_146_length_268_cov_209.806283, whole genome shotgu...
Escherichia sp. L578-3-1 NODE_146_length_268_cov_209.806283, whole genome shotgun sequencegi|2676633366|ref|NZ_JAYQWL01000014 gnl|WGS:NZ_JAYQWL01|NODE_146_length_268_cov_209.806283Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024