NM_000057.4(BLM):c.2874G>A (p.Val958=) AND Bloom syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002175977.6
Allele description [Variation Report for NM_000057.4(BLM):c.2874G>A (p.Val958=)]
NM_000057.4(BLM):c.2874G>A (p.Val958=)
Condition(s)
-
Protein of unknown function (DUF847) [Edwardsiella ictaluri 93-146]
Protein of unknown function (DUF847) [Edwardsiella ictaluri 93-146]gi|238869754|gb|ACR69465.1||gnl|uoh 01EI_2294Protein
-
disproportionating enzyme 1 [Vigna angularis]
disproportionating enzyme 1 [Vigna angularis]gi|440647150|dbj|BAM74439.1|Protein
-
glucanotransferase [Chlamydia pneumoniae J138]
glucanotransferase [Chlamydia pneumoniae J138]gi|8978700|dbj|BAA98536.1|Protein
-
malQ [Edwardsiella piscicida]
malQ [Edwardsiella piscicida]Gene ID:58257259Gene
-
malQ [Streptococcus gallolyticus]
malQ [Streptococcus gallolyticus]Gene ID:57922476Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024