NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter) AND Fleck corneal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001731226.3
Allele description [Variation Report for NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)]
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)
Condition(s)
-
HSAAACHKB B, Human Liver tissue Homo sapiens cDNA similar to (Genbank L00132) hu...
HSAAACHKB B, Human Liver tissue Homo sapiens cDNA similar to (Genbank L00132) human serum albumin (alb) mrna, complete cds, mRNA sequencegi|27261|gnl|dbEST|19003|emb|Z20516Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023