NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) AND Retinitis Pigmentosa, Recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000392686.5
Allele description [Variation Report for NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)]
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)
Condition(s)
- Name:
- Retinitis Pigmentosa, Recessive
- Identifiers:
- MedGen: CN239466
-
Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 2, mRNA
Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 2, mRNAgi|7110640|ref|NM_012268.1|Nucleotide
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Last Updated: Sep 29, 2024