NM_001377303.1(L3MBTL1):c.1060T>C (p.Cys354Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004344901.1
Allele description [Variation Report for NM_001377303.1(L3MBTL1):c.1060T>C (p.Cys354Arg)]
NM_001377303.1(L3MBTL1):c.1060T>C (p.Cys354Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens F-box protein 42 (FBXO42), transcript variant X1, mRNA
PREDICTED: Homo sapiens F-box protein 42 (FBXO42), transcript variant X1, mRNAgi|2217268276|ref|XM_047422747.1|Nucleotide
-
Corvus corax voucher MGL-624 cytochrome c oxidase subunit I (COX1) gene, partial...
Corvus corax voucher MGL-624 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2619854980|gb|OR794368.1|Nucleotide
-
zinc finger and SCAN domain-containing protein 32 isoform X3 [Homo sapiens]
zinc finger and SCAN domain-containing protein 32 isoform X3 [Homo sapiens]gi|2462549527|ref|XP_054236553.1|Protein
-
Alexander Disease - GeneReviews®
Alexander Disease - GeneReviews®
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024