NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs) AND Intellectual disability, autosomal dominant 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001957450.4
Allele description [Variation Report for NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs)]
NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs)
Condition(s)
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Spatial Transcriptomics reveals that cells that experience intratumoral hypoxia ...
Spatial Transcriptomics reveals that cells that experience intratumoral hypoxia retain hypoxia-associated transcriptional programs after invading into oxygenated tumor regions.Spatial Transcriptomics reveals that cells that experience intratumoral hypoxia retain hypoxia-associated transcriptional programs after invading into oxygenated tumor regions.BioProject
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NADH dehydrogenase subunit 4L (mitochondrion) [Cladobotryum mycophilum]
NADH dehydrogenase subunit 4L (mitochondrion) [Cladobotryum mycophilum]gi|2026154795|ref|YP_010043420.1|Protein
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PREDICTED: Homo sapiens structural maintenance of chromosomes 5 (SMC5), transcri...
PREDICTED: Homo sapiens structural maintenance of chromosomes 5 (SMC5), transcript variant X1, mRNAgi|2462623619|ref|XM_054362451.1|Nucleotide
-
translation elongation factor 1 alpha, partial [Aplosporella longipes]
translation elongation factor 1 alpha, partial [Aplosporella longipes]gi|2184122487|gb|UJT42368.1|Protein
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translation elongation factor 1-alpha, partial [Aequabiliella effusa]
translation elongation factor 1-alpha, partial [Aequabiliella effusa]gi|1929249857|gb|QOY46722.1|Protein
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Last Updated: Sep 29, 2024