NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly) AND Bloom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003615216.2
Allele description [Variation Report for NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly)]
NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly)
Condition(s)
-
kin of IRRE-like protein 3 isoform X1 [Oncorhynchus gorbuscha]
kin of IRRE-like protein 3 isoform X1 [Oncorhynchus gorbuscha]gi|2186647020|ref|XP_046149959.1|Protein
-
LOC123992660 [Oncorhynchus gorbuscha]
LOC123992660 [Oncorhynchus gorbuscha]Gene ID:123992660Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024