NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser) AND Bloom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002039818.5
Allele description [Variation Report for NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser)]
NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser)
Condition(s)
-
PREDICTED: Canis lupus familiaris septin 3 (SEPTIN3), transcript variant X2, mRN...
PREDICTED: Canis lupus familiaris septin 3 (SEPTIN3), transcript variant X2, mRNAgi|1952957329|ref|XM_038550375.1|Nucleotide
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Homo sapiens isolate R503 mitochondrion, complete genome
Homo sapiens isolate R503 mitochondrion, complete genomegi|373446376|gb|JQ245805.1|Nucleotide
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EMILIN3 [Ovis aries]
EMILIN3 [Ovis aries]Gene ID:101104083Gene
-
Chromosome neighbors for GEO Profiles (Select 77998110) (20)
GEO Profiles
-
"Intrahepatic bile duct cysts"[Clinical Features] OR 586535[uid] (2)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024