NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys) AND Familial meningioma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000694711.6
Allele description [Variation Report for NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys)]
NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys)
Condition(s)
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Homo sapiens mediator complex subunit MED25 variant MED25_i19 (MED25) mRNA, comp...
Homo sapiens mediator complex subunit MED25 variant MED25_i19 (MED25) mRNA, complete cds, alternatively splicedgi|182627716|gb|EU392516.1|Nucleotide
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Ppp1r1b protein phosphatase 1, regulatory inhibitor subunit 1B [Mus musculus]
Ppp1r1b protein phosphatase 1, regulatory inhibitor subunit 1B [Mus musculus]Gene ID:19049Gene
-
ITPKB inositol-trisphosphate 3-kinase B [Homo sapiens]
ITPKB inositol-trisphosphate 3-kinase B [Homo sapiens]Gene ID:3707Gene
-
Gene Links for Protein (Select 158260423) (1)
Gene
-
ETS-related transcription factor Elf-1 isoform X1 [Homo sapiens]
ETS-related transcription factor Elf-1 isoform X1 [Homo sapiens]gi|2217293659|ref|XP_047286079.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024