NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001873614.4
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)]
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
Condition(s)
- Name:
- Autosomal recessive distal spinal muscular atrophy 1
- Synonyms:
- HMN VI; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC; Spinal muscular atrophy with respiratory distress 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011436; MedGen: C1858517; Orphanet: 98920; OMIM: 604320
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immunoglobulin heavy chain junction region, partial [Homo sapiens]
immunoglobulin heavy chain junction region, partial [Homo sapiens]gb|MOL10417.1||gnl|TLS:KCIZ|M04810: 000000-BKB5G:1:2107:26550:18747_1Protein
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Gene Links for GEO Profiles (Select 33771783) (1)
Gene
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TRPC2 transient receptor potential cation channel subfamily C member 2 (pseudoge...
TRPC2 transient receptor potential cation channel subfamily C member 2 (pseudogene) [Homo sapiens]Gene ID:7221Gene
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Profile neighbors for GEO Profiles (Select 33760638) (200)
GEO Profiles
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Last Updated: Mar 16, 2024