NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002488524.1
Allele description [Variation Report for NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)]
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
Condition(s)
- Name:
- MASA syndrome (SPG1)
- Synonyms:
- MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS; Spastic paraplegia 1; Mental Retardation Aphasia Shuffling Gait Adducted Thumbs (MASA); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010559; MedGen: C0795953; OMIM: 303350
- Name:
- X-linked complicated corpus callosum dysgenesis
- Synonyms:
- Corpus callosum, partial agenesis of, X-linked
- Identifiers:
- MONDO: MONDO:0010569; MedGen: C1839909; Orphanet: 1497; OMIM: 304100
- Name:
- X-linked hydrocephalus syndrome (HYCX)
- Synonyms:
- Aqueductal stenosis, X-linked; X-linked hydrocephalus; HYDROCEPHALUS, CONGENITAL, X-LINKED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010611; MedGen: C0265216; Orphanet: 2182; OMIM: 307000
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Micropsalliota sp. SH-2022a voucher SQUH-GOB002 large subunit ribosomal RNA gene...
Micropsalliota sp. SH-2022a voucher SQUH-GOB002 large subunit ribosomal RNA gene, partial sequencegi|2191632798|gb|OM630414.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024