NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu) AND Retinal dystrophy with or without macular staphyloma
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003227770.2
Allele description [Variation Report for NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu)]
NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu)
Condition(s)
-
Homo sapiens family with sequence similarity 156 member A (FAM156A), transcript ...
Homo sapiens family with sequence similarity 156 member A (FAM156A), transcript variant 10, mRNAgi|1677500093|ref|NM_001242497.2|Nucleotide
-
Prosopocoilus sp. A NLG-2014 isolate COL894 28S ribosomal RNA gene, partial sequ...
Prosopocoilus sp. A NLG-2014 isolate COL894 28S ribosomal RNA gene, partial sequencegi|695116738|gb|KF802162.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024