NM_000057.4(BLM):c.716A>G (p.Asp239Gly) AND Bloom syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000234230.10
Allele description [Variation Report for NM_000057.4(BLM):c.716A>G (p.Asp239Gly)]
NM_000057.4(BLM):c.716A>G (p.Asp239Gly)
Condition(s)
-
MULTISPECIES: non-heme iron oxygenase ferredoxin subunit [Leptospira]
MULTISPECIES: non-heme iron oxygenase ferredoxin subunit [Leptospira]gi|445932195|ref|WP_000010050.1|Protein
-
Ictidomys tridecemlineatus isolate #75 contig014127, whole genome shotgun sequen...
Ictidomys tridecemlineatus isolate #75 contig014127, whole genome shotgun sequencegi|358215790|gb|AGTP01014127.1||gnl AGTP01|contig014127Nucleotide
-
Synpcc7942_0155 [Synechococcus elongatus PCC 7942]
Synpcc7942_0155 [Synechococcus elongatus PCC 7942]Gene ID:3773495Gene
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024