PRPF31-AS1 (PRPF31 antisense RNA 1) - Rat Genome Database

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Gene: PRPF31-AS1 (PRPF31 antisense RNA 1) Homo sapiens
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Symbol: PRPF31-AS1
Name: PRPF31 antisense RNA 1
RGD ID: 127338355
HGNC Page HGNC:40700
Description: ASSOCIATED WITH retinitis pigmentosa
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381954,119,510 - 54,122,642 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371954,622,890 - 54,626,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.42NCBI
T2T-CHM13v2.01957,198,207 - 57,201,339 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

References

Genomics

Variants

.
Variants in PRPF31-AS1
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015629.4(PRPF31):c.239-1G>C single nucleotide variant Retinitis pigmentosa 11 [RCV003448825] Chr19:54121859 [GRCh38]
Chr19:54625238 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs) duplication Retinal dystrophy [RCV004818316]|Retinitis pigmentosa [RCV003313014] Chr19:54123870..54123871 [GRCh38]
Chr19:54627249..54627250 [GRCh37]
Chr19:19q13.42		 pathogenic
NC_000019.10:g.(?_54118278)_(54126618_54128072)del deletion Retinal dystrophy [RCV004814241] Chr19:54118278..54126618 [GRCh38]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) single nucleotide variant Retinitis pigmentosa 11 [RCV004776450]|Retinitis pigmentosa [RCV001724808]|not provided [RCV001859436] Chr19:54129075 [GRCh38]
Chr19:54632450 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_015629.4(PRPF31):c.359del (p.Lys120fs) deletion Retinal dystrophy [RCV000504670] Chr19:54122531 [GRCh38]
Chr19:54625910 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NC_000019.10:g.(?_54115478)_(54129310_54131513)del deletion Retinal dystrophy [RCV004818581] Chr19:54115478..54129310 [GRCh38]
Chr19:19q13.42		 pathogenic
NC_000019.10:g.(?_54118270)_(54118634_54121859)del deletion Retinal dystrophy [RCV004817668] Chr19:54118270..54118634 [GRCh38]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.376G>T (p.Glu126Ter) single nucleotide variant Retinal dystrophy [RCV004818656] Chr19:54122550 [GRCh38]
Chr19:54625929 [GRCh37]
Chr19:19q13.42		 pathogenic
NC_000019.10:g.(?_54115478)_(54123485_54123843)del deletion Retinal dystrophy [RCV004814078] Chr19:54115478..54123485 [GRCh38]
Chr19:19q13.42		 pathogenic
NC_000019.10:g.(?_54115478)_(54123843_54124602)del deletion Retinal dystrophy [RCV004817671] Chr19:54115478..54123843 [GRCh38]
Chr19:19q13.42		 pathogenic
NC_000019.10:g.(54115478_54118425)_(54131513_?)del deletion Retinal dystrophy [RCV004815796] Chr19:54118425..54131513 [GRCh38]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.413C>G (p.Thr138Arg) single nucleotide variant not provided [RCV001983734] Chr19:54122587 [GRCh38]
Chr19:54625966 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.504C>T (p.Ser168=) single nucleotide variant Retinitis pigmentosa [RCV001129019] Chr19:54123537 [GRCh38]
Chr19:54626916 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.239-6_239-3del deletion not provided [RCV000997008] Chr19:54121853..54121856 [GRCh38]
Chr19:54625232..54625235 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.244G>T (p.Gly82Ter) single nucleotide variant not provided [RCV001949663] Chr19:54121865 [GRCh38]
Chr19:54625244 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.415del (p.Val139fs) deletion not provided [RCV001954877] Chr19:54122588 [GRCh38]
Chr19:54625967 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.251T>C (p.Val84Ala) single nucleotide variant Retinal dystrophy [RCV003888959]|Retinitis pigmentosa 11 [RCV004785424]|not provided [RCV002002588] Chr19:54121872 [GRCh38]
Chr19:54625251 [GRCh37]
Chr19:19q13.42		 benign|likely benign|uncertain significance
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
NM_015629.4(PRPF31):c.322+14G>A single nucleotide variant not provided [RCV002187750] Chr19:54121957 [GRCh38]
Chr19:54625336 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.96_102del (p.Ile32fs) deletion Retinitis pigmentosa [RCV001199511] Chr19:54118371..54118377 [GRCh38]
Chr19:54621751..54621757 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.666_668del (p.Ile223del) deletion Retinitis pigmentosa [RCV000787655] Chr19:54123885..54123887 [GRCh38]
Chr19:54627264..54627266 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.673del (p.Ala225fs) deletion Retinitis pigmentosa [RCV000787656] Chr19:54123891 [GRCh38]
Chr19:54627270 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.743dup (p.Asn248fs) duplication not provided [RCV000487978] Chr19:54124542..54124543 [GRCh38]
Chr19:54627921..54627922 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.322+1G>A single nucleotide variant Retinitis pigmentosa [RCV000991051] Chr19:54121944 [GRCh38]
Chr19:54625323 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.271C>T (p.Arg91Cys) single nucleotide variant Inborn genetic diseases [RCV002545545]|not provided [RCV002016505] Chr19:54121892 [GRCh38]
Chr19:54625271 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.856-1G>A single nucleotide variant Retinitis pigmentosa [RCV000991056] Chr19:54126527 [GRCh38]
Chr19:54629902 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) single nucleotide variant Retinal dystrophy [RCV000225367] Chr19:54122515 [GRCh38]
Chr19:54625894 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del) deletion Retinitis pigmentosa 11 [RCV000004613] Chr19:54122500..54122511 [GRCh38]
Chr19:54625879..54625890 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.330_333del (p.His111fs) deletion Retinal dystrophy [RCV001074826]|not provided [RCV001862576] Chr19:54122501..54122504 [GRCh38]
Chr19:54625880..54625883 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.274G>A (p.Val92Ile) single nucleotide variant Inborn genetic diseases [RCV004041828]|not provided [RCV001964754] Chr19:54121895 [GRCh38]
Chr19:54625274 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.282G>C (p.Val94=) single nucleotide variant not provided [RCV002145659] Chr19:54121903 [GRCh38]
Chr19:54625282 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.323-1G>C single nucleotide variant Retinal dystrophy [RCV003888348]|not provided [RCV001864700] Chr19:54122496 [GRCh38]
Chr19:54625875 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_015629.4(PRPF31):c.557G>T (p.Arg186Leu) single nucleotide variant not provided [RCV000520276] Chr19:54123778 [GRCh38]
Chr19:54627157 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.239-8C>A single nucleotide variant not provided [RCV001941311] Chr19:54121852 [GRCh38]
Chr19:54625231 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_015629.4(PRPF31):c.33C>T (p.Leu11=) single nucleotide variant Retinitis pigmentosa [RCV001132610] Chr19:54118311 [GRCh38]
Chr19:54621691 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_015629.4(PRPF31):c.417C>A (p.Val139=) single nucleotide variant not provided [RCV001881853] Chr19:54122591 [GRCh38]
Chr19:54625970 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.689del (p.Lys230fs) deletion Retinitis pigmentosa [RCV001003130] Chr19:54123909 [GRCh38]
Chr19:54627288 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.392A>G (p.Asn131Ser) single nucleotide variant not provided [RCV001372812] Chr19:54122566 [GRCh38]
Chr19:54625945 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
NM_015629.4(PRPF31):c.239-13C>T single nucleotide variant Retinitis pigmentosa [RCV000350418]|not provided [RCV001511946] Chr19:54121847 [GRCh38]
Chr19:54625226 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) single nucleotide variant Retinitis pigmentosa [RCV000991048] Chr19:54118281 [GRCh38]
Chr19:54621661 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.279dup (p.Val94fs) duplication Retinal dystrophy [RCV004818122]|Retinitis pigmentosa [RCV001199735]|not provided [RCV000997009] Chr19:54121899..54121900 [GRCh38]
Chr19:54625278..54625279 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_015629.4(PRPF31):c.335del (p.Lys112fs) deletion Retinitis pigmentosa [RCV000991054] Chr19:54122508 [GRCh38]
Chr19:54625887 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.414G>C (p.Thr138=) single nucleotide variant not provided [RCV002190954] Chr19:54122588 [GRCh38]
Chr19:54625967 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.256_268del (p.Ala86fs) deletion not provided [RCV001886412] Chr19:54121877..54121889 [GRCh38]
Chr19:54625256..54625268 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs) deletion Retinitis pigmentosa [RCV001199736]|not provided [RCV002551710] Chr19:54122542..54122546 [GRCh38]
Chr19:54625921..54625925 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter) single nucleotide variant Retinitis pigmentosa [RCV001199738] Chr19:54123760 [GRCh38]
Chr19:54627139 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.272G>A (p.Arg91His) single nucleotide variant Retinal dystrophy [RCV003888989]|not provided [RCV001996219] Chr19:54121893 [GRCh38]
Chr19:54625272 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.309C>T (p.Ile103=) single nucleotide variant not provided [RCV001472267] Chr19:54121930 [GRCh38]
Chr19:54625309 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.280G>A (p.Val94Met) single nucleotide variant not provided [RCV001927047] Chr19:54121901 [GRCh38]
Chr19:54625280 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.697+1G>A single nucleotide variant Retinitis pigmentosa [RCV001003131] Chr19:54123919 [GRCh38]
Chr19:54627298 [GRCh37]
Chr19:19q13.42		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs) insertion Retinitis pigmentosa [RCV001199734] Chr19:54118454..54118455 [GRCh38]
Chr19:54621834..54621835 [GRCh37]
Chr19:19q13.42		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_015629.4(PRPF31):c.332A>G (p.His111Arg) single nucleotide variant not provided [RCV000512674] Chr19:54122506 [GRCh38]
Chr19:54625885 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.358_359del (p.Lys120fs) deletion not provided [RCV001682650] Chr19:54122531..54122532 [GRCh38]
Chr19:54625910..54625911 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.323-2A>G single nucleotide variant not provided [RCV001902343] Chr19:54122495 [GRCh38]
Chr19:54625874 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.349A>T (p.Lys117Ter) single nucleotide variant not provided [RCV001882084] Chr19:54122523 [GRCh38]
Chr19:54625902 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.317del (p.Glu106fs) deletion not provided [RCV001949651] Chr19:54121938 [GRCh38]
Chr19:54625317 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.343del (p.Arg115fs) deletion not provided [RCV001937592] Chr19:54122516 [GRCh38]
Chr19:54625895 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.420+7G>C single nucleotide variant not provided [RCV002212920] Chr19:54122601 [GRCh38]
Chr19:54625980 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.322+16C>T single nucleotide variant not provided [RCV001864079] Chr19:54121959 [GRCh38]
Chr19:54625338 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_015629.4(PRPF31):c.239-2A>G single nucleotide variant Retinitis pigmentosa [RCV000991310]|not provided [RCV001543581] Chr19:54121858 [GRCh38]
Chr19:54625237 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_015629.4(PRPF31):c.239-12G>A single nucleotide variant Retinitis pigmentosa [RCV001135993]|not provided [RCV001509813] Chr19:54121848 [GRCh38]
Chr19:54625227 [GRCh37]
Chr19:19q13.42		 benign|uncertain significance
NM_015629.4(PRPF31):c.420+11A>G single nucleotide variant Retinitis pigmentosa [RCV001135994]|not provided [RCV003769642] Chr19:54122605 [GRCh38]
Chr19:54625984 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_015629.4(PRPF31):c.323-111C>T single nucleotide variant not provided [RCV001649975] Chr19:54122386 [GRCh38]
Chr19:54625765 [GRCh37]
Chr19:19q13.42		 benign
NM_015629.4(PRPF31):c.373C>G (p.Leu125Val) single nucleotide variant Retinal dystrophy [RCV000787865]|not provided [RCV002535758] Chr19:54122547 [GRCh38]
Chr19:54625926 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_015629.4(PRPF31):c.390del (p.Asn131fs) deletion not provided [RCV001951311] Chr19:54122561 [GRCh38]
Chr19:54625940 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile) single nucleotide variant Retinitis pigmentosa [RCV001129020] Chr19:54123542 [GRCh38]
Chr19:54626921 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.414G>A (p.Thr138=) single nucleotide variant Retinal dystrophy [RCV003888302]|not provided [RCV001531305] Chr19:54122588 [GRCh38]
Chr19:54625967 [GRCh37]
Chr19:19q13.42		 benign|likely benign|conflicting interpretations of pathogenicity
NM_015629.4(PRPF31):c.247C>G (p.Pro83Ala) single nucleotide variant Inborn genetic diseases [RCV004039807]|not provided [RCV001901823] Chr19:54121868 [GRCh38]
Chr19:54625247 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.382T>C (p.Leu128=) single nucleotide variant not provided [RCV002140948] Chr19:54122556 [GRCh38]
Chr19:54625935 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.261G>A (p.Ala87=) single nucleotide variant not provided [RCV002136125] Chr19:54121882 [GRCh38]
Chr19:54625261 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.315C>T (p.Asn105=) single nucleotide variant not provided [RCV002156332] Chr19:54121936 [GRCh38]
Chr19:54625315 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.322+15G>A single nucleotide variant not provided [RCV002141148] Chr19:54121958 [GRCh38]
Chr19:54625337 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.300C>T (p.Thr100=) single nucleotide variant not provided [RCV002161914] Chr19:54121921 [GRCh38]
Chr19:54625300 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.322+20C>T single nucleotide variant not provided [RCV002203954] Chr19:54121963 [GRCh38]
Chr19:54625342 [GRCh37]
Chr19:19q13.42		 benign
NM_015629.4(PRPF31):c.279C>T (p.Ile93=) single nucleotide variant not provided [RCV002161344] Chr19:54121900 [GRCh38]
Chr19:54625279 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.409C>T (p.Arg137Cys) single nucleotide variant not provided [RCV002862063] Chr19:54122583 [GRCh38]
Chr19:54625962 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.274G>T (p.Val92Phe) single nucleotide variant not provided [RCV002796078] Chr19:54121895 [GRCh38]
Chr19:54625274 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.387C>T (p.Val129=) single nucleotide variant not provided [RCV003038101] Chr19:54122561 [GRCh38]
Chr19:54625940 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.322+2T>G single nucleotide variant not provided [RCV003038527] Chr19:54121945 [GRCh38]
Chr19:54625324 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_015629.4(PRPF31):c.264_276dup (p.Ile93Ter) duplication not provided [RCV003008245] Chr19:54121883..54121884 [GRCh38]
Chr19:54625262..54625263 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.351G>A (p.Lys117=) single nucleotide variant not provided [RCV002581252] Chr19:54122525 [GRCh38]
Chr19:54625904 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.259_263del (p.Ala86_Ala87insTer) deletion not provided [RCV003028679] Chr19:54121877..54121881 [GRCh38]
Chr19:54625256..54625260 [GRCh37]
Chr19:19q13.42		 pathogenic
GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1 copy number loss Retinitis pigmentosa 11 [RCV003327677] Chr19:54121739..54129468 [GRCh38]
Chr19:19q13.42		 pathogenic
GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1 copy number loss Retinitis pigmentosa 11 [RCV003327681] Chr19:54105500..54126715 [GRCh38]
Chr19:19q13.42		 pathogenic
GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1 copy number loss Retinitis pigmentosa 11 [RCV003327679] Chr19:54114345..54129468 [GRCh38]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.351dup (p.Tyr118fs) duplication not provided [RCV003573848] Chr19:54122524..54122525 [GRCh38]
Chr19:54625903..54625904 [GRCh37]
Chr19:19q13.42		 pathogenic
NC_000019.10:g.(?_54115478)_(54131513_?)del deletion Retinal dystrophy [RCV004817287] Chr19:54115478..54131513 [GRCh38]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.389C>T (p.Pro130Leu) single nucleotide variant not provided [RCV003669658] Chr19:54122563 [GRCh38]
Chr19:54625942 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.347A>G (p.Asp116Gly) single nucleotide variant Retinal dystrophy [RCV003890379] Chr19:54122521 [GRCh38]
Chr19:54625900 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.310G>T (p.Glu104Ter) single nucleotide variant Retinal dystrophy [RCV003890378] Chr19:54121931 [GRCh38]
Chr19:54625310 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.304G>T (p.Glu102Ter) single nucleotide variant Retinal dystrophy [RCV003890377] Chr19:54121925 [GRCh38]
Chr19:54625304 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.265G>T (p.Glu89Ter) single nucleotide variant Retinal dystrophy [RCV003890376] Chr19:54121886 [GRCh38]
Chr19:54625265 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.271C>G (p.Arg91Gly) single nucleotide variant Inborn genetic diseases [RCV004660369] Chr19:54121892 [GRCh38]
Chr19:54625271 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.322+5G>A single nucleotide variant Retinal dystrophy [RCV004795326] Chr19:54121948 [GRCh38]
Chr19:54625327 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.325ATC[1] (p.Ile110del) microsatellite not provided [RCV005196015] Chr19:54122498..54122500 [GRCh38]
Chr19:54625877..54625879 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.405C>T (p.Tyr135=) single nucleotide variant not provided [RCV005074996] Chr19:54122579 [GRCh38]
Chr19:54625958 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.301G>A (p.Val101Met) single nucleotide variant not provided [RCV005079906] Chr19:54121922 [GRCh38]
Chr19:54625301 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.241A>G (p.Met81Val) single nucleotide variant not provided [RCV005121962] Chr19:54121862 [GRCh38]
Chr19:54625241 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.365dup (p.Pro123_Glu124insTer) duplication Retinitis pigmentosa 11 [RCV005252330] Chr19:54122537..54122538 [GRCh38]
Chr19:54625916..54625917 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.322+11G>A single nucleotide variant not provided [RCV005073364] Chr19:54121954 [GRCh38]
Chr19:54625333 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.260C>T (p.Ala87Val) single nucleotide variant not provided [RCV002028678] Chr19:54121881 [GRCh38]
Chr19:54625260 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.322+4_322+7del microsatellite not provided [RCV001091273] Chr19:54121941..54121944 [GRCh38]
Chr19:54625320..54625323 [GRCh37]
Chr19:19q13.42		 pathogenic|conflicting interpretations of pathogenicity
NM_015629.4(PRPF31):c.239-3C>G single nucleotide variant not provided [RCV001966706] Chr19:54121857 [GRCh38]
Chr19:54625236 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn) single nucleotide variant Retinitis pigmentosa [RCV001199737]|not provided [RCV000585399] Chr19:54122594 [GRCh38]
Chr19:54625973 [GRCh37]
Chr19:19q13.42		 pathogenic|uncertain significance
NM_015629.4(PRPF31):c.245_246del (p.Gly82fs) deletion Retinitis pigmentosa [RCV001249885] Chr19:54121866..54121867 [GRCh38]
Chr19:54625245..54625246 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.395del (p.Ala132fs) deletion not provided [RCV001291621] Chr19:54122569 [GRCh38]
Chr19:54625948 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.267del (p.Glu89fs) deletion Retinitis pigmentosa 11 [RCV001809203] Chr19:54121887 [GRCh38]
Chr19:54625266 [GRCh37]
Chr19:19q13.42		 likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
NM_015629.4(PRPF31):c.855+1G>A single nucleotide variant not provided [RCV000437897] Chr19:54124657 [GRCh38]
Chr19:54628036 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.400del (p.Asp134fs) deletion Retinal dystrophy [RCV000225511] Chr19:54122573 [GRCh38]
Chr19:54625952 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.420+7G>A single nucleotide variant PRPF31-related disorder [RCV003940323]|Retinitis pigmentosa 11 [RCV002502275]|Retinitis pigmentosa [RCV000374663]|not provided [RCV001516676] Chr19:54122601 [GRCh38]
Chr19:54625980 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_015629.4(PRPF31):c.359dup (p.Arg121fs) duplication PRPF31-related disorder [RCV004731213]|Retinal dystrophy [RCV004816819]|not provided [RCV002037684] Chr19:54122530..54122531 [GRCh38]
Chr19:54625909..54625910 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.239-1G>A single nucleotide variant Retinal dystrophy [RCV001074296]|Retinitis pigmentosa 11 [RCV001376221]|not provided [RCV001862823] Chr19:54121859 [GRCh38]
Chr19:54625238 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_015629.4(PRPF31):c.358_361del (p.Lys120fs) deletion Retinal dystrophy [RCV001073856] Chr19:54122531..54122534 [GRCh38]
Chr19:54625910..54625913 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.239-1G>T single nucleotide variant Retinal dystrophy [RCV001073949]|Retinitis pigmentosa 11 [RCV002497488] Chr19:54121859 [GRCh38]
Chr19:54625238 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_015629.4(PRPF31):c.323-11G>A single nucleotide variant not provided [RCV002132884] Chr19:54122486 [GRCh38]
Chr19:54625865 [GRCh37]
Chr19:19q13.42		 likely benign
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) deletion Retinitis pigmentosa [RCV000991049] Chr19:54118364..54118367 [GRCh38]
Chr19:54621744..54621747 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.325A>G (p.Ile109Val) single nucleotide variant not provided [RCV001730377] Chr19:54122499 [GRCh38]
Chr19:54625878 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) deletion Retinitis pigmentosa 11 [RCV000735652]|not provided [RCV000513499] Chr19:54126575 [GRCh38]
Chr19:54629950 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_015629.4(PRPF31):c.321G>A (p.Leu107=) single nucleotide variant not provided [RCV002852748] Chr19:54121942 [GRCh38]
Chr19:54625321 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.239-17C>A single nucleotide variant not provided [RCV002811143] Chr19:54121843 [GRCh38]
Chr19:54625222 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.420+1G>A single nucleotide variant Retinitis pigmentosa 11 [RCV004797417] Chr19:54122595 [GRCh38]
Chr19:54625974 [GRCh37]
Chr19:19q13.42		 pathogenic
GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1 copy number loss Retinitis pigmentosa 11 [RCV003327678] Chr19:54121739..54131817 [GRCh38]
Chr19:19q13.42		 pathogenic
GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1 copy number loss Retinitis pigmentosa 11 [RCV003327680] Chr19:54106667..54131817 [GRCh38]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.323-8T>C single nucleotide variant not provided [RCV003576828] Chr19:54122489 [GRCh38]
Chr19:54625868 [GRCh37]
Chr19:19q13.42		 likely benign
NM_015629.4(PRPF31):c.-9+1G>T single nucleotide variant Retinitis pigmentosa [RCV003494095]|not provided [RCV004723341] Chr19:54115798 [GRCh38]
Chr19:54619178 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NC_000019.10:g.(?_54115478)_(54118852_54121934)del deletion Retinal dystrophy [RCV004817691] Chr19:54115478..54118852 [GRCh38]
Chr19:19q13.42		 pathogenic
NM_015629.4(PRPF31):c.323-3T>C single nucleotide variant not provided [RCV003864048] Chr19:54122494 [GRCh38]
Chr19:54625873 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_015629.4(PRPF31):c.323-12C>T single nucleotide variant not provided [RCV005172105] Chr19:54122485 [GRCh38]
Chr19:54625864 [GRCh37]
Chr19:19q13.42		 likely benign

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human


Expression

RNA-SEQ Expression


Sequence


RefSeq Acc Id: NR_186329
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381954,119,510 - 54,122,642 (-)NCBI
T2T-CHM13v2.01957,198,207 - 57,201,339 (-)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC PRPF31-AS1 COSMIC
GTEx PRPF31-AS1 GTEx
HGNC ID HGNC:40700 ENTREZGENE
Human Proteome Map PRPF31-AS1 Human Proteome Map
NCBI Gene PRPF31-AS1 ENTREZGENE
RNAcentral URS00026A2150 RNACentral