NM_000057.4(BLM):c.2202T>C (p.Ala734=) AND Bloom syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001869317.12
Allele description [Variation Report for NM_000057.4(BLM):c.2202T>C (p.Ala734=)]
NM_000057.4(BLM):c.2202T>C (p.Ala734=)
Condition(s)
-
Gm20172 AND (alive[prop]) (2)
Gene
-
Gm45392 predicted gene 45392 [Mus musculus]
Gm45392 predicted gene 45392 [Mus musculus]Gene ID:118567493Gene
-
Gm45392 AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024