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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PRPH | Human | amyotrophic lateral sclerosis type 1 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PRPH | Human | amyotrophic lateral sclerosis type 1 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:1378416 | PMID:1986862 | PMID:7622044 | PMID:7806235 | PMID:7976309 | PMID:8381395 | PMID:9085149 | PMID:9414188 | PMID:9453548 | PMID:10728817 | PMID:11835375 | PMID:12223549 |
PMID:12358815 | PMID:12403814 | PMID:12477932 | PMID:14675609 | PMID:14702039 | PMID:15322088 | PMID:15489334 | PMID:16189514 | PMID:16787413 | PMID:17569669 | PMID:18287500 | PMID:18408015 |
PMID:18528283 | PMID:18709437 | PMID:19156129 | PMID:19946888 | PMID:20301623 | PMID:20363051 | PMID:20533992 | PMID:21088854 | PMID:21145461 | PMID:21241994 | PMID:21654808 | PMID:21743467 |
PMID:21873635 | PMID:21900206 | PMID:22360420 | PMID:22939629 | PMID:23179371 | PMID:23533145 | PMID:23718855 | PMID:25720964 | PMID:26460568 | PMID:26469323 | PMID:27185639 | PMID:27565346 |
PMID:28225217 | PMID:28302793 | PMID:28514442 | PMID:28533407 | PMID:29128334 | PMID:29196434 | PMID:29845934 | PMID:30822235 | PMID:30940648 | PMID:30992453 | PMID:31501420 | PMID:31586073 |
PMID:32296183 | PMID:32814053 | PMID:33567341 | PMID:33961781 | PMID:34079125 | PMID:34728620 | PMID:35013218 | PMID:35063084 | PMID:35575683 | PMID:36217029 | PMID:36634849 | PMID:37071682 |
PMID:38697112 | PMID:39358380 |
PRPH (Homo sapiens - human) |
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Prph (Mus musculus - house mouse) |
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Prph (Rattus norvegicus - Norway rat) |
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Prph (Chinchilla lanigera - long-tailed chinchilla) |
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PRPH (Pan paniscus - bonobo/pygmy chimpanzee) |
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PRPH (Canis lupus familiaris - dog) |
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Prph (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PRPH (Sus scrofa - pig) |
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PRPH (Chlorocebus sabaeus - green monkey) |
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Prph (Heterocephalus glaber - naked mole-rat) |
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Variants in PRPH
69 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
PRPH, 1-BP DEL, 228C | deletion | Amyotrophic lateral sclerosis, susceptibility to [RCV000014705] | Chr12:12q12-q13 | risk factor |
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) | single nucleotide variant | Amyotrophic lateral sclerosis, susceptibility to [RCV000014706]|PRPH-related disorder [RCV003964802]|not provided [RCV000057167]|not specified [RCV000523206] | Chr12:49295621 [GRCh38] Chr12:49689404 [GRCh37] Chr12:12q13.12 |
risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_006262.4(PRPH):c.*82C>A | single nucleotide variant | not provided [RCV000057153] | Chr12:49298435 [GRCh38] Chr12:49692218 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.-23G>C | single nucleotide variant | not provided [RCV000057154] | Chr12:49295178 [GRCh38] Chr12:49688961 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.-24G>C | single nucleotide variant | not provided [RCV000057155] | Chr12:49295177 [GRCh38] Chr12:49688960 [GRCh37] Chr12:12q13.12 |
benign|not provided |
NM_006262.4(PRPH):c.1083C>G (p.Leu361=) | single nucleotide variant | PRPH-related disorder [RCV003974943]|not provided [RCV000057156] | Chr12:49297443 [GRCh38] Chr12:49691226 [GRCh37] Chr12:12q13.12 |
benign|likely benign|not provided |
NM_006262.4(PRPH):c.1107A>G (p.Lys369=) | single nucleotide variant | not provided [RCV000057157]|not specified [RCV001579593] | Chr12:49297467 [GRCh38] Chr12:49691250 [GRCh37] Chr12:12q13.12 |
benign|not provided |
NM_006262.4(PRPH):c.1108G>A (p.Glu370Lys) | single nucleotide variant | not provided [RCV000057158] | Chr12:49297468 [GRCh38] Chr12:49691251 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.1217+27C>A | single nucleotide variant | not provided [RCV000057159] | Chr12:49297604 [GRCh38] Chr12:49691387 [GRCh37] Chr12:12q13.12 |
likely benign|not provided |
NM_006262.4(PRPH):c.1217+34G>A | single nucleotide variant | not provided [RCV000057160] | Chr12:49297611 [GRCh38] Chr12:49691394 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.1217+43C>A | single nucleotide variant | not provided [RCV000057161] | Chr12:49297620 [GRCh38] Chr12:49691403 [GRCh37] Chr12:12q13.12 |
benign|not provided |
NM_006262.4(PRPH):c.1267+58T>C | single nucleotide variant | not provided [RCV000057162] | Chr12:49297784 [GRCh38] Chr12:49691567 [GRCh37] Chr12:12q13.12 |
benign|not provided |
NM_006262.4(PRPH):c.1348-36dup | duplication | not provided [RCV000057163] | Chr12:49298250..49298251 [GRCh38] Chr12:49692033..49692034 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.229del (p.Arg77fs) | deletion | Amyotrophic lateral sclerosis, susceptibility to [RCV002295280]|not provided [RCV000057164] | Chr12:49295429 [GRCh38] Chr12:49689212 [GRCh37] Chr12:12q13.12 |
risk factor|not provided |
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) | single nucleotide variant | Amyotrophic lateral sclerosis type 1 [RCV002496748]|not provided [RCV000057165]|not specified [RCV001727557] | Chr12:49295226 [GRCh38] Chr12:49689009 [GRCh37] Chr12:12q13.12 |
benign|not provided |
NM_006262.4(PRPH):c.398G>C (p.Arg133Pro) | single nucleotide variant | not provided [RCV000057166] | Chr12:49295598 [GRCh38] Chr12:49689381 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.545+69G>C | single nucleotide variant | not provided [RCV000057168] | Chr12:49295814 [GRCh38] Chr12:49689597 [GRCh37] Chr12:12q13.12 |
benign|not provided |
NM_006262.4(PRPH):c.547T>C (p.Leu183=) | single nucleotide variant | not provided [RCV000057169] | Chr12:49296179 [GRCh38] Chr12:49689962 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.606+52T>G | single nucleotide variant | not provided [RCV000057170] | Chr12:49296290 [GRCh38] Chr12:49690073 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.607-77A>C | single nucleotide variant | not provided [RCV000057171] | Chr12:49296355 [GRCh38] Chr12:49690138 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.63C>T (p.Phe21=) | single nucleotide variant | PRPH-related disorder [RCV003964911]|not provided [RCV000057172] | Chr12:49295263 [GRCh38] Chr12:49689046 [GRCh37] Chr12:12q13.12 |
benign|likely benign|not provided |
NM_006262.4(PRPH):c.702+27T>C | single nucleotide variant | not provided [RCV000057173] | Chr12:49296554 [GRCh38] Chr12:49690337 [GRCh37] Chr12:12q13.12 |
benign|not provided |
NM_006262.4(PRPH):c.703-13C>T | single nucleotide variant | not provided [RCV000057174] | Chr12:49296876 [GRCh38] Chr12:49690659 [GRCh37] Chr12:12q13.12 |
not provided |
NM_006262.4(PRPH):c.829G>A (p.Ala277Thr) | single nucleotide variant | PRPH-related disorder [RCV003974944]|not provided [RCV000057175] | Chr12:49297015 [GRCh38] Chr12:49690798 [GRCh37] Chr12:12q13.12 |
benign|likely benign|not provided |
NM_006262.4(PRPH):c.870+12G>A | single nucleotide variant | not provided [RCV000057176] | Chr12:49297068 [GRCh38] Chr12:49690851 [GRCh37] Chr12:12q13.12 |
not provided |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 | copy number gain | See cases [RCV000207454] | Chr12:31886971..50360461 [GRCh37] Chr12:12p11.21-q13.12 |
pathogenic |
NM_006262.4(PRPH):c.996+1G>A | single nucleotide variant | PRPH-related disorder [RCV003932785]|not provided [RCV000488011] | Chr12:49297274 [GRCh38] Chr12:49297274..49297275 [GRCh38] Chr12:49691057 [GRCh37] Chr12:49691057..49691058 [GRCh37] Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 12q13.12(chr12:49667030-49692424)x1 | copy number loss | See cases [RCV000446499] | Chr12:49667030..49692424 [GRCh37] Chr12:12q13.12 |
uncertain significance |
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 | copy number gain | See cases [RCV000448835] | Chr12:37857750..49791459 [GRCh37] Chr12:12q11-13.12 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_006262.4(PRPH):c.104C>G (p.Ser35Trp) | single nucleotide variant | Inborn genetic diseases [RCV003260134] | Chr12:49295304 [GRCh38] Chr12:49689087 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NC_000012.11:g.26370251_54361538inv | inversion | not specified [RCV000714265] | Chr12:26370251..54361538 [GRCh37] Chr12:12p12.1-q13.13 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q13.12(chr12:49667921-49716782)x3 | copy number gain | not provided [RCV000750396] | Chr12:49667921..49716782 [GRCh37] Chr12:12q13.12 |
benign |
GRCh37/hg19 12q13.12(chr12:49676010-49690337)x3 | copy number gain | not provided [RCV000750397] | Chr12:49676010..49690337 [GRCh37] Chr12:12q13.12 |
benign |
NC_000012.12:g.49295097C>G | single nucleotide variant | not provided [RCV001611271] | Chr12:49295097 [GRCh38] Chr12:49688880 [GRCh37] Chr12:12q13.12 |
benign |
NM_006262.4(PRPH):c.1303C>T (p.Arg435Trp) | single nucleotide variant | not provided [RCV001691375] | Chr12:49297993 [GRCh38] Chr12:49691776 [GRCh37] Chr12:12q13.12 |
benign |
NM_006262.4(PRPH):c.190C>T (p.Arg64Ter) | single nucleotide variant | Amyotrophic lateral sclerosis [RCV001095524] | Chr12:49295390 [GRCh38] Chr12:49689173 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.703-163T>C | single nucleotide variant | not provided [RCV001610211] | Chr12:49296726 [GRCh38] Chr12:49690509 [GRCh37] Chr12:12q13.12 |
benign |
NM_006262.4(PRPH):c.1104A>G (p.Leu368=) | single nucleotide variant | not provided [RCV000909479] | Chr12:49297464 [GRCh38] Chr12:49691247 [GRCh37] Chr12:12q13.12 |
likely benign |
NM_006262.4(PRPH):c.352C>A (p.Leu118Met) | single nucleotide variant | not provided [RCV000913079] | Chr12:49295552 [GRCh38] Chr12:49689335 [GRCh37] Chr12:12q13.12 |
benign |
NM_006262.4(PRPH):c.69A>G (p.Pro23=) | single nucleotide variant | not provided [RCV000912575] | Chr12:49295269 [GRCh38] Chr12:49689052 [GRCh37] Chr12:12q13.12 |
likely benign |
NM_006262.4(PRPH):c.1268-34T>C | single nucleotide variant | not provided [RCV001719342] | Chr12:49297924 [GRCh38] Chr12:49691707 [GRCh37] Chr12:12q13.12 |
benign |
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 | copy number gain | not provided [RCV001259140] | Chr12:49024019..50299974 [GRCh37] Chr12:12q13.11-13.12 |
uncertain significance |
GRCh37/hg19 12q13.12(chr12:49584942-49910016)x3 | copy number gain | not provided [RCV001259142] | Chr12:49584942..49910016 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.860A>G (p.Tyr287Cys) | single nucleotide variant | Inborn genetic diseases [RCV004034474]|not provided [RCV001356929] | Chr12:49297046 [GRCh38] Chr12:49690829 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.560C>T (p.Thr187Met) | single nucleotide variant | Inborn genetic diseases [RCV002557552]|not provided [RCV001455115] | Chr12:49296192 [GRCh38] Chr12:49689975 [GRCh37] Chr12:12q13.12 |
likely benign|uncertain significance |
NM_006262.4(PRPH):c.1376G>A (p.Arg459His) | single nucleotide variant | not provided [RCV001773909] | Chr12:49298316 [GRCh38] Chr12:49692099 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.248C>T (p.Ala83Val) | single nucleotide variant | not provided [RCV001765815] | Chr12:49295448 [GRCh38] Chr12:49689231 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.607-1G>A | single nucleotide variant | Amyotrophic lateral sclerosis type 1 [RCV001808230] | Chr12:49296431 [GRCh38] Chr12:49690214 [GRCh37] Chr12:12q13.12 |
likely pathogenic |
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) | copy number gain | not specified [RCV002052988] | Chr12:37857750..49791459 [GRCh37] Chr12:12q11-13.12 |
pathogenic |
NM_006262.4(PRPH):c.1235A>C (p.His412Pro) | single nucleotide variant | Amyotrophic lateral sclerosis type 10 [RCV002463847] | Chr12:49297694 [GRCh38] Chr12:49691477 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.1009C>T (p.Leu337Phe) | single nucleotide variant | Inborn genetic diseases [RCV002733369] | Chr12:49297369 [GRCh38] Chr12:49691152 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.1190G>T (p.Arg397Leu) | single nucleotide variant | Inborn genetic diseases [RCV002687249] | Chr12:49297550 [GRCh38] Chr12:49691333 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.16T>C (p.Ser6Pro) | single nucleotide variant | Inborn genetic diseases [RCV002870474] | Chr12:49295216 [GRCh38] Chr12:49688999 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.466G>C (p.Glu156Gln) | single nucleotide variant | Inborn genetic diseases [RCV002983891] | Chr12:49295666 [GRCh38] Chr12:49689449 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.546G>C (p.Arg182Ser) | single nucleotide variant | Inborn genetic diseases [RCV002763061] | Chr12:49296178 [GRCh38] Chr12:49689961 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.17C>T (p.Ser6Leu) | single nucleotide variant | Inborn genetic diseases [RCV002765347] | Chr12:49295217 [GRCh38] Chr12:49689000 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.667G>A (p.Asp223Asn) | single nucleotide variant | Inborn genetic diseases [RCV002709197] | Chr12:49296492 [GRCh38] Chr12:49690275 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.697G>A (p.Glu233Lys) | single nucleotide variant | Inborn genetic diseases [RCV002960727]|not provided [RCV004765726] | Chr12:49296522 [GRCh38] Chr12:49690305 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.644A>G (p.Glu215Gly) | single nucleotide variant | Inborn genetic diseases [RCV002920905] | Chr12:49296469 [GRCh38] Chr12:49690252 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.799G>A (p.Asp267Asn) | single nucleotide variant | Inborn genetic diseases [RCV002897845] | Chr12:49296985 [GRCh38] Chr12:49690768 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.1079G>T (p.Arg360Leu) | single nucleotide variant | Inborn genetic diseases [RCV002747558] | Chr12:49297439 [GRCh38] Chr12:49691222 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.256C>T (p.Leu86Phe) | single nucleotide variant | not provided [RCV003159528] | Chr12:49295456 [GRCh38] Chr12:49689239 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.314del (p.Asn105fs) | deletion | not provided [RCV003225579] | Chr12:49295513 [GRCh38] Chr12:49689296 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.724A>G (p.Ser242Gly) | single nucleotide variant | Inborn genetic diseases [RCV003213593] | Chr12:49296910 [GRCh38] Chr12:49690693 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.326C>T (p.Ala109Val) | single nucleotide variant | Inborn genetic diseases [RCV003185450] | Chr12:49295526 [GRCh38] Chr12:49689309 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.1064A>C (p.Gln355Pro) | single nucleotide variant | Inborn genetic diseases [RCV003204619] | Chr12:49297424 [GRCh38] Chr12:49691207 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.931G>C (p.Glu311Gln) | single nucleotide variant | not provided [RCV003332704] | Chr12:49297208 [GRCh38] Chr12:49690991 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.499G>A (p.Val167Met) | single nucleotide variant | Inborn genetic diseases [RCV003371711] | Chr12:49295699 [GRCh38] Chr12:49689482 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.416G>A (p.Arg139His) | single nucleotide variant | Inborn genetic diseases [RCV003369525] | Chr12:49295616 [GRCh38] Chr12:49689399 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.146C>T (p.Ala49Val) | single nucleotide variant | Inborn genetic diseases [RCV003375757] | Chr12:49295346 [GRCh38] Chr12:49689129 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NC_000012.11:g.(?_49688929)_(49691510_49691740)dup | duplication | not specified [RCV003404820] | Chr12:49688929..49691510 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.807C>T (p.Arg269=) | single nucleotide variant | not provided [RCV003391800] | Chr12:49296993 [GRCh38] Chr12:49690776 [GRCh37] Chr12:12q13.12 |
likely benign |
NM_006262.4(PRPH):c.192AGCGGG[3] (p.Ala69_Leu70insGlyAla) | microsatellite | not provided [RCV003488309] | Chr12:49295390..49295391 [GRCh38] Chr12:49689173..49689174 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.917G>T (p.Arg306Leu) | single nucleotide variant | Inborn genetic diseases [RCV004507580] | Chr12:49297194 [GRCh38] Chr12:49690977 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.653T>C (p.Ile218Thr) | single nucleotide variant | Inborn genetic diseases [RCV004507579] | Chr12:49296478 [GRCh38] Chr12:49690261 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.632G>T (p.Arg211Leu) | single nucleotide variant | Inborn genetic diseases [RCV004507578] | Chr12:49296457 [GRCh38] Chr12:49690240 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.578C>A (p.Ala193Glu) | single nucleotide variant | Inborn genetic diseases [RCV004507577] | Chr12:49296210 [GRCh38] Chr12:49689993 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.487G>C (p.Asp163His) | single nucleotide variant | Inborn genetic diseases [RCV004507575] | Chr12:49295687 [GRCh38] Chr12:49689470 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.457C>G (p.Arg153Gly) | single nucleotide variant | Inborn genetic diseases [RCV004507574] | Chr12:49295657 [GRCh38] Chr12:49689440 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.395C>T (p.Ala132Val) | single nucleotide variant | Inborn genetic diseases [RCV004507573] | Chr12:49295595 [GRCh38] Chr12:49689378 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.383A>T (p.Glu128Val) | single nucleotide variant | Inborn genetic diseases [RCV004507572] | Chr12:49295583 [GRCh38] Chr12:49689366 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.919C>T (p.Gln307Ter) | single nucleotide variant | Amyotrophic lateral sclerosis type 1 [RCV004547323] | Chr12:49297196 [GRCh38] Chr12:49690979 [GRCh37] Chr12:12q13.12 |
likely pathogenic |
NM_006262.4(PRPH):c.394G>A (p.Ala132Thr) | single nucleotide variant | Inborn genetic diseases [RCV004648868] | Chr12:49295594 [GRCh38] Chr12:49689377 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.5G>C (p.Ser2Thr) | single nucleotide variant | Inborn genetic diseases [RCV004648869] | Chr12:49295205 [GRCh38] Chr12:49688988 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NM_006262.4(PRPH):c.1087G>A (p.Glu363Lys) | single nucleotide variant | Inborn genetic diseases [RCV004648870] | Chr12:49297447 [GRCh38] Chr12:49691230 [GRCh37] Chr12:12q13.12 |
uncertain significance |
NC_000012.11:g.(?_49688929)_(49691361_49691459)dup | duplication | not specified [RCV004587962] | Chr12:49688929..49691361 [GRCh37] Chr12:12q13.12 |
benign |
NM_006262.4(PRPH):c.364A>G (p.Asn122Asp) | single nucleotide variant | Amyotrophic lateral sclerosis type 1 [RCV004795851] | Chr12:49295564 [GRCh38] Chr12:49689347 [GRCh37] Chr12:12q13.12 |
uncertain significance |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
STS-L14565 |
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GDB:384860 |
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PRPH_2980 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
|
sensory system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2378 | 2735 | 2208 | 4820 | 1521 | 2098 | 4 | 444 | 1055 | 286 | 2205 | 6015 | 5513 | 42 | 3657 | 766 | 1702 | 1544 | 169 |
RefSeq Transcripts | NG_008354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_006262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005269025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_944623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA460760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC125611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK125587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC032703 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF448012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ772262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L14565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000257860 ⟹ ENSP00000257860 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000451891 ⟹ ENSP00000408897 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000530631 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000532332 ⟹ ENSP00000437182 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000533401 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000537252 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000551194 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_006262 ⟹ NP_006253 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_006253 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA60190 | (Get FASTA) | NCBI Sequence Viewer |
AAH32703 | (Get FASTA) | NCBI Sequence Viewer | |
BAG54218 | (Get FASTA) | NCBI Sequence Viewer | |
CAF33862 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58060 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58061 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000257860 | ||
ENSP00000257860.4 | |||
ENSP00000408897.4 | |||
ENSP00000437182.2 | |||
GenBank Protein | P41219 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006253 ⟸ NM_006262 |
- UniProtKB: | Q8N577 (UniProtKB/Swiss-Prot), P41219 (UniProtKB/Swiss-Prot), B3KWQ6 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000408897 ⟸ ENST00000451891 |
Ensembl Acc Id: | ENSP00000257860 ⟸ ENST00000257860 |
Ensembl Acc Id: | ENSP00000437182 ⟸ ENST00000532332 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P41219-F1-model_v2 | AlphaFold | P41219 | 1-470 | view protein structure |
RGD ID: | 6790388 | ||||||||
Promoter ID: | HG_KWN:15553 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | NB4 | ||||||||
Transcripts: | ENST00000257860 | ||||||||
Position: |
|
RGD ID: | 7223821 | ||||||||
Promoter ID: | EPDNEW_H17656 | ||||||||
Type: | initiation region | ||||||||
Name: | PRPH_2 | ||||||||
Description: | peripherin | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H17657 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7223823 | ||||||||
Promoter ID: | EPDNEW_H17657 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | PRPH_1 | ||||||||
Description: | peripherin | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H17656 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:9461 | AgrOrtholog |
COSMIC | PRPH | COSMIC |
Ensembl Genes | ENSG00000135406 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000257860 | ENTREZGENE |
ENST00000257860.9 | UniProtKB/Swiss-Prot | |
ENST00000451891.4 | UniProtKB/TrEMBL | |
ENST00000532332.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.5.170 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Single helix bin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Vasodilator-stimulated phosphoprotein | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000135406 | GTEx |
HGNC ID | HGNC:9461 | ENTREZGENE |
Human Proteome Map | PRPH | Human Proteome Map |
InterPro | IF_conserved | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IF_rod_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Intermed_filament_DNA-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Intermediate_filament | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Keratin_I | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5630 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 5630 | ENTREZGENE |
OMIM | 170710 | OMIM |
PANTHER | GLIAL FIBRILLARY ACIDIC PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR45652:SF14 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Filament | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Filament_head | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA33816 | PharmGKB |
PRINTS | TYPE1KERATIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | IF_ROD_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IF_ROD_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | Filament | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Intermediate filament protein, coiled coil region | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B3KWQ6 | ENTREZGENE, UniProtKB/TrEMBL |
F8W835_HUMAN | UniProtKB/TrEMBL | |
H7C5W5_HUMAN | UniProtKB/TrEMBL | |
P41219 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Q8N577 | ENTREZGENE | |
UniProt Secondary | Q8N577 | UniProtKB/Swiss-Prot |