GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 AND Russell-Silver syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003444025.1
Allele description [Variation Report for GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3]
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3
Condition(s)
-
1,5-anhydro-D-fructose reductase isoform X5 [Homo sapiens]
1,5-anhydro-D-fructose reductase isoform X5 [Homo sapiens]gi|2217278863|ref|XP_047281768.1|Protein
-
PREDICTED: Homo sapiens aldo-keto reductase family 1 member E2 (AKR1E2), transcr...
PREDICTED: Homo sapiens aldo-keto reductase family 1 member E2 (AKR1E2), transcript variant X9, mRNAgi|2217278862|ref|XM_047425812.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024