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NM_006445.3(PRPF8):c.6901C>A (p.Pro2301Thr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jul 15, 2001
Accession:
VCV000003358.1
Variation ID:
3358
Description:
single nucleotide variant
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NM_006445.3(PRPF8):c.6901C>A (p.Pro2301Thr)

Allele ID
18397
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.3
Genomic location
17: 1650909 (GRCh38) GRCh38 UCSC
17: 1554203 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.1650909G>T
NC_000017.10:g.1554203G>T
NM_006445.3:c.6901C>A NP_006436.3:p.Pro2301Thr missense
... more HGVS
Protein change
P2301T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: Q6P2Q9#VAR_022626
OMIM: 607300.0004
dbSNP: rs121434239
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jul 15, 2001 RCV000003522.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRPF8 - - GRCh38
GRCh38
GRCh37
111 182

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 15, 2001)
no assertion criteria provided
Method: literature only
RETINITIS PIGMENTOSA 13
Allele origin: germline
OMIM
Accession: SCV000023680.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). McKie AB Human molecular genetics 2001 PMID: 11468273

Record last updated Jun 17, 2019