NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser) AND Retinitis pigmentosa 13
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 2, 2011
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000023644.3
Allele description [Variation Report for NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)]
NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)
Condition(s)
-
aminoacyl-histidine dipeptidase [Blautia argi]
aminoacyl-histidine dipeptidase [Blautia argi]gi|1418362920|gnl|PRJNA477901|DQQ01 0|gb|AWY99458.1|Protein
-
Dentin, Opalescent
Dentin, OpalescentMedGen
-
C4049050[conceptid] (1)
MedGen
-
C-terminal-binding protein 1 isoform X7 [Strigops habroptila]
C-terminal-binding protein 1 isoform X7 [Strigops habroptila]gi|1728956018|ref|XP_030349044.1|Protein
-
Magnusiomyces magnusii
Magnusiomyces magnusiiDipodascus magnusii RefSeq GenomeBioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024