NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=) AND ABCA4-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098166.4
Allele description [Variation Report for NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)]
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)
Condition(s)
- Name:
- ABCA4-related disorder
- Synonyms:
- ABCA4-Related Disorders; ABCA4-related condition
- Identifiers:
- MedGen: CN239167
-
Homo sapiens ubiquitin specific peptidase 6 (USP6), transcript variant 2, mRNA
Homo sapiens ubiquitin specific peptidase 6 (USP6), transcript variant 2, mRNAgi|747019228|ref|NM_004505.3|Nucleotide
-
Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/USA/CA-...
Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/USA/CA-CZB-59X002/2020, complete genomegi|1835438350|gb|MT394528.1|Nucleotide
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Last Updated: Sep 29, 2024