NM_018418.5(SPATA7):c.-62G>A AND Leber congenital amaurosis 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000267446.5
Allele description [Variation Report for NM_018418.5(SPATA7):c.-62G>A]
NM_018418.5(SPATA7):c.-62G>A
Condition(s)
-
exocyst complex component 6 isoform X4 [Homo sapiens]
exocyst complex component 6 isoform X4 [Homo sapiens]gi|1034568534|ref|XP_016871836.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 14, 2023