NM_000350.3(ABCA4):c.6729+5_6729+19del AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074704.3
Allele description [Variation Report for NM_000350.3(ABCA4):c.6729+5_6729+19del]
NM_000350.3(ABCA4):c.6729+5_6729+19del
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Homo sapiens splicing factor, arginine/serine-rich 3 (SFRS3), mRNA
Homo sapiens splicing factor, arginine/serine-rich 3 (SFRS3), mRNAgi|24025684|ref|NM_003017.2|Nucleotide
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Homo sapiens serine and arginine rich splicing factor 3 (SRSF3), transcript vari...
Homo sapiens serine and arginine rich splicing factor 3 (SRSF3), transcript variant 2, non-coding RNAgi|1890388970|ref|NR_036610.2|Nucleotide
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Last Updated: Sep 8, 2024