NM_001353788.2(APBA2):c.229G>A (p.Val77Met) AND not specified
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002246958.2
Allele description [Variation Report for NM_001353788.2(APBA2):c.229G>A (p.Val77Met)]
NM_001353788.2(APBA2):c.229G>A (p.Val77Met)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Drosophila melanogaster glucose dehydrogenase, transcript variant A (Gld), mRNA
Drosophila melanogaster glucose dehydrogenase, transcript variant A (Gld), mRNAgi|665393407|ref|NM_058155.5|Nucleotide
-
Homo sapiens H2A.B variant histone 1 (H2AB1), mRNA
Homo sapiens H2A.B variant histone 1 (H2AB1), mRNAgi|1780002116|ref|NM_001017990.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024