NM_022437.3(ABCG8):c.1494C>T (p.Leu498=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002389763.2
Allele description [Variation Report for NM_022437.3(ABCG8):c.1494C>T (p.Leu498=)]
NM_022437.3(ABCG8):c.1494C>T (p.Leu498=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens midline 1 (MID1), transcript variant 4, mRNA
Homo sapiens midline 1 (MID1), transcript variant 4, mRNAgi|300797028|ref|NM_001098624.2|Nucleotide
-
ig54e09.x1 HR85 islet Homo sapiens cDNA 3' similar to TR:Q9XZ21 Q9XZ21 BCDNA:LD2...
ig54e09.x1 HR85 islet Homo sapiens cDNA 3' similar to TR:Q9XZ21 Q9XZ21 BCDNA:LD21643 PROTEIN, mRNA sequencegi|18048787|gnl|dbEST|10730116|gb|B 42.1|Nucleotide
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Last Updated: May 1, 2024