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Gene Ontology Annotations Click to see Annotation Detail View
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Gene Ontology Annotations Click to see Annotation Detail View
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:16344560 | PMID:18976975 | PMID:21873635 | PMID:21988832 | PMID:23870195 |
MROH5 (Homo sapiens - human) |
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Mroh5 (Mus musculus - house mouse) |
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Mroh5 (Rattus norvegicus - Norway rat) |
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Mroh5 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100987797 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MROH5 (Canis lupus familiaris - dog) |
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LOC101965287 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MROH5 (Sus scrofa - pig) |
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LOC103237517 (Chlorocebus sabaeus - green monkey) |
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Mroh5 (Heterocephalus glaber - naked mole-rat) |
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Variants in MROH5
153 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 | copy number gain | See cases [RCV000050830] | Chr8:128220912..145049449 [GRCh38] Chr8:129233158..146274835 [GRCh37] Chr8:129302340..146245639 [NCBI36] Chr8:8q24.21-24.3 |
pathogenic |
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 | copy number gain | See cases [RCV000050638] | Chr8:113580402..145054634 [GRCh38] Chr8:114592631..146280020 [GRCh37] Chr8:114661807..146250824 [NCBI36] Chr8:8q23.3-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q24.3(chr8:141131265-142117372)x3 | copy number gain | See cases [RCV000052186] | Chr8:141131265..142117372 [GRCh38] Chr8:142141364..143198733 [GRCh37] Chr8:142210546..143196640 [NCBI36] Chr8:8q24.3 |
uncertain significance |
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] | Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 | copy number gain | See cases [RCV000053678] | Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] | Chr8:139447227..145054775 [GRCh38] Chr8:140459470..146280161 [GRCh37] Chr8:140528652..146250965 [NCBI36] Chr8:8q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 | copy number gain | See cases [RCV000134353] | Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 | copy number gain | See cases [RCV000137644] | Chr8:130639182..145068712 [GRCh38] Chr8:131651428..146294098 [GRCh37] Chr8:131720610..146264902 [NCBI36] Chr8:8q24.22-24.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 | copy number gain | See cases [RCV000137466] | Chr8:139236824..145068712 [GRCh38] Chr8:140249067..146294098 [GRCh37] Chr8:140318249..146264902 [NCBI36] Chr8:8q24.3 |
likely pathogenic |
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 | copy number gain | See cases [RCV000137340] | Chr8:139004218..145049449 [GRCh38] Chr8:140016461..146274835 [GRCh37] Chr8:140085643..146245639 [NCBI36] Chr8:8q24.3 |
likely pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 | copy number gain | See cases [RCV000137346] | Chr8:124498498..145068712 [GRCh38] Chr8:125510739..146294098 [GRCh37] Chr8:125579920..146264902 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 | copy number gain | See cases [RCV000138551] | Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 | copy number gain | See cases [RCV000139036] | Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 | copy number gain | See cases [RCV000140447] | Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 | copy number gain | See cases [RCV000141694] | Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 | copy number gain | See cases [RCV000142810] | Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 | copy number gain | See cases [RCV000142597] | Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 | copy number gain | See cases [RCV000143659] | Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 | copy number gain | See cases [RCV000148117] | Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 | copy number gain | See cases [RCV002292707] | Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 | copy number gain | See cases [RCV000448954] | Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:142438569-142482615) | copy number gain | Abnormal esophagus morphology [RCV000416898] | Chr8:142438569..142482615 [GRCh37] Chr8:8q24.3 |
benign |
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 | copy number gain | See cases [RCV000448348] | Chr8:134825277..146280828 [GRCh37] Chr8:8q24.22-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 | copy number gain | See cases [RCV000512003] | Chr8:136378789..146295771 [GRCh37] Chr8:8q24.22-24.3 |
likely pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 | copy number gain | See cases [RCV000511002] | Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 | copy number gain | See cases [RCV000510854] | Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_207414.3(MROH5):c.3455C>A (p.Ala1152Asp) | single nucleotide variant | not specified [RCV004311318] | Chr8:141436013 [GRCh38] Chr8:142446113 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.430C>T (p.Arg144Trp) | single nucleotide variant | not specified [RCV004330826] | Chr8:141494916 [GRCh38] Chr8:142505016 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3419C>T (p.Ala1140Val) | single nucleotide variant | not specified [RCV004311053] | Chr8:141436049 [GRCh38] Chr8:142446149 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3443A>T (p.Asp1148Val) | single nucleotide variant | not specified [RCV004286244] | Chr8:141436025 [GRCh38] Chr8:142446125 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.460G>A (p.Gly154Arg) | single nucleotide variant | not specified [RCV004293216] | Chr8:141494886 [GRCh38] Chr8:142504986 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.122G>T (p.Cys41Phe) | single nucleotide variant | not specified [RCV004331158] | Chr8:141496460 [GRCh38] Chr8:142506560 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1147T>C (p.Tyr383His) | single nucleotide variant | not specified [RCV004326454] | Chr8:141478714 [GRCh38] Chr8:142488814 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.37A>G (p.Thr13Ala) | single nucleotide variant | not specified [RCV004294171] | Chr8:141507113 [GRCh38] Chr8:142517213 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 | copy number gain | See cases [RCV000512401] | Chr8:114853126..146295771 [GRCh37] Chr8:8q23.3-24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:141850516-143511413)x3 | copy number gain | See cases [RCV000512275] | Chr8:141850516..143511413 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 | copy number gain | not provided [RCV000683044] | Chr8:121694649..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:142446260-143549805)x3 | copy number gain | not provided [RCV000683005] | Chr8:142446260..143549805 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:142502403-142503214)x1 | copy number loss | not provided [RCV000747896] | Chr8:142502403..142503214 [GRCh37] Chr8:8q24.3 |
benign |
GRCh37/hg19 8q24.3(chr8:142502507-142503214)x1 | copy number loss | not provided [RCV000747897] | Chr8:142502507..142503214 [GRCh37] Chr8:8q24.3 |
benign |
GRCh37/hg19 8q24.3(chr8:142502519-142503214)x1 | copy number loss | not provided [RCV000747898] | Chr8:142502519..142503214 [GRCh37] Chr8:8q24.3 |
benign |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 | copy number loss | not provided [RCV001006144] | Chr8:126892814..143750028 [GRCh37] Chr8:8q24.13-24.3 |
pathogenic |
NM_207414.3(MROH5):c.605G>A (p.Arg202Gln) | single nucleotide variant | not specified [RCV004295802] | Chr8:141490209 [GRCh38] Chr8:142500309 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 | copy number loss | not provided [RCV001006150] | Chr8:142132678..145569441 [GRCh37] Chr8:8q24.3 |
pathogenic |
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 | copy number gain | not provided [RCV000846814] | Chr8:139188797..146295771 [GRCh37] Chr8:8q24.23-24.3 |
pathogenic |
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 | copy number gain | not provided [RCV000849762] | Chr8:122193546..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 | copy number gain | not provided [RCV000847171] | Chr8:136059859..146295771 [GRCh37] Chr8:8q24.22-24.3 |
pathogenic |
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 | copy number gain | not provided [RCV000845705] | Chr8:125496223..146295771 [GRCh37] Chr8:8q24.13-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_207414.3(MROH5):c.1120T>A (p.Trp374Arg) | single nucleotide variant | not specified [RCV004303657] | Chr8:141478741 [GRCh38] Chr8:142488841 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2003A>G (p.Lys668Arg) | single nucleotide variant | not specified [RCV004292479] | Chr8:141471058 [GRCh38] Chr8:142481158 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.2419C>T (p.Arg807Trp) | single nucleotide variant | not specified [RCV004281554] | Chr8:141466467 [GRCh38] Chr8:142476567 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1107C>A (p.Asp369Glu) | single nucleotide variant | not specified [RCV004294504] | Chr8:141478754 [GRCh38] Chr8:142488854 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) | copy number gain | Distal trisomy 8q [RCV003325441] | Chr8:131138343..143473913 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:142309348-143247742)x3 | copy number gain | not provided [RCV002472745] | Chr8:142309348..143247742 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 | copy number gain | not provided [RCV001006146] | Chr8:128877995..146295771 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 | copy number gain | not provided [RCV001006140] | Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 | copy number gain | See cases [RCV002285066] | Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) | copy number gain | not specified [RCV002053797] | Chr8:130863093..146295771 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) | copy number gain | not specified [RCV002053772] | Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:142326501-143237710) | copy number gain | not specified [RCV002053803] | Chr8:142326501..143237710 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) | copy number gain | not provided [RCV002221452] | Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
NM_207414.3(MROH5):c.1009C>G (p.Arg337Gly) | single nucleotide variant | not specified [RCV004309117] | Chr8:141479293 [GRCh38] Chr8:142489393 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2674G>A (p.Glu892Lys) | single nucleotide variant | not specified [RCV004294644] | Chr8:141448052 [GRCh38] Chr8:142458152 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3602G>A (p.Arg1201Gln) | single nucleotide variant | not specified [RCV004233791] | Chr8:141435203 [GRCh38] Chr8:142445303 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3190G>A (p.Gly1064Ser) | single nucleotide variant | not specified [RCV004184936] | Chr8:141440258 [GRCh38] Chr8:142450358 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3409G>A (p.Gly1137Arg) | single nucleotide variant | not specified [RCV004204330] | Chr8:141436059 [GRCh38] Chr8:142446159 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.3749G>A (p.Cys1250Tyr) | single nucleotide variant | not specified [RCV004172988] | Chr8:141434856 [GRCh38] Chr8:142444956 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3839C>G (p.Thr1280Ser) | single nucleotide variant | not specified [RCV004164855] | Chr8:141434568 [GRCh38] Chr8:142444668 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3769A>T (p.Thr1257Ser) | single nucleotide variant | not specified [RCV004151454] | Chr8:141434836 [GRCh38] Chr8:142444936 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.148C>T (p.Arg50Cys) | single nucleotide variant | not specified [RCV004198396] | Chr8:141496434 [GRCh38] Chr8:142506534 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.3710A>G (p.His1237Arg) | single nucleotide variant | not specified [RCV004245878] | Chr8:141434895 [GRCh38] Chr8:142444995 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3857C>A (p.Thr1286Asn) | single nucleotide variant | not specified [RCV004106360] | Chr8:141434058 [GRCh38] Chr8:142444158 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1597C>T (p.Arg533Trp) | single nucleotide variant | not specified [RCV004196124] | Chr8:141475996 [GRCh38] Chr8:142486096 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.41C>T (p.Pro14Leu) | single nucleotide variant | not specified [RCV004229985] | Chr8:141507109 [GRCh38] Chr8:142517209 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3361C>T (p.Leu1121Phe) | single nucleotide variant | not specified [RCV004217734] | Chr8:141436724 [GRCh38] Chr8:142446824 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3457A>G (p.Met1153Val) | single nucleotide variant | not specified [RCV004144000] | Chr8:141436011 [GRCh38] Chr8:142446111 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1897C>A (p.Gln633Lys) | single nucleotide variant | not specified [RCV004114629] | Chr8:141471164 [GRCh38] Chr8:142481264 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1951C>T (p.Arg651Cys) | single nucleotide variant | not specified [RCV004200592] | Chr8:141471110 [GRCh38] Chr8:142481210 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3689G>A (p.Ser1230Asn) | single nucleotide variant | not specified [RCV004213064] | Chr8:141434916 [GRCh38] Chr8:142445016 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.91C>G (p.Pro31Ala) | single nucleotide variant | not specified [RCV004199940] | Chr8:141496491 [GRCh38] Chr8:142506591 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3008G>A (p.Arg1003His) | single nucleotide variant | not specified [RCV004235851] | Chr8:141441213 [GRCh38] Chr8:142451313 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3904G>A (p.Ala1302Thr) | single nucleotide variant | not specified [RCV004073991] | Chr8:141434011 [GRCh38] Chr8:142444111 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1645C>A (p.Leu549Ile) | single nucleotide variant | not specified [RCV004147860] | Chr8:141475948 [GRCh38] Chr8:142486048 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.641C>T (p.Thr214Met) | single nucleotide variant | not specified [RCV004130537] | Chr8:141490173 [GRCh38] Chr8:142500273 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2950G>C (p.Gly984Arg) | single nucleotide variant | not specified [RCV004172121] | Chr8:141441649 [GRCh38] Chr8:142451749 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3217G>A (p.Asp1073Asn) | single nucleotide variant | not specified [RCV004212334] | Chr8:141440231 [GRCh38] Chr8:142450331 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3526C>A (p.Leu1176Met) | single nucleotide variant | not specified [RCV004186747] | Chr8:141435942 [GRCh38] Chr8:142446042 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3415C>T (p.Arg1139Trp) | single nucleotide variant | not specified [RCV004218585] | Chr8:141436053 [GRCh38] Chr8:142446153 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2609A>G (p.Lys870Arg) | single nucleotide variant | not specified [RCV004079798] | Chr8:141449618 [GRCh38] Chr8:142459718 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3595C>T (p.Arg1199Cys) | single nucleotide variant | not specified [RCV004084038] | Chr8:141435210 [GRCh38] Chr8:142445310 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1766A>C (p.His589Pro) | single nucleotide variant | not specified [RCV004236426] | Chr8:141472953 [GRCh38] Chr8:142483053 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1649A>G (p.His550Arg) | single nucleotide variant | not specified [RCV004212289] | Chr8:141475944 [GRCh38] Chr8:142486044 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.718G>T (p.Asp240Tyr) | single nucleotide variant | not specified [RCV004214071] | Chr8:141488583 [GRCh38] Chr8:142498683 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1485G>C (p.Gln495His) | single nucleotide variant | not specified [RCV004102473] | Chr8:141476108 [GRCh38] Chr8:142486208 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1001C>T (p.Ala334Val) | single nucleotide variant | not specified [RCV004216301] | Chr8:141479301 [GRCh38] Chr8:142489401 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1798C>G (p.His600Asp) | single nucleotide variant | not specified [RCV004226777] | Chr8:141472921 [GRCh38] Chr8:142483021 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.189C>A (p.His63Gln) | single nucleotide variant | not specified [RCV004119469] | Chr8:141496393 [GRCh38] Chr8:142506493 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1433C>T (p.Ala478Val) | single nucleotide variant | not specified [RCV004203173] | Chr8:141477415 [GRCh38] Chr8:142487515 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.628A>T (p.Thr210Ser) | single nucleotide variant | not specified [RCV004073478] | Chr8:141490186 [GRCh38] Chr8:142500286 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3367G>A (p.Val1123Ile) | single nucleotide variant | not specified [RCV004223057] | Chr8:141436718 [GRCh38] Chr8:142446818 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.1525C>G (p.Leu509Val) | single nucleotide variant | not specified [RCV004231452] | Chr8:141476068 [GRCh38] Chr8:142486168 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1406G>A (p.Arg469Gln) | single nucleotide variant | not specified [RCV004224990] | Chr8:141477442 [GRCh38] Chr8:142487542 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2347C>T (p.Arg783Cys) | single nucleotide variant | not specified [RCV004079387] | Chr8:141466539 [GRCh38] Chr8:142476639 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.1766A>G (p.His589Arg) | single nucleotide variant | not specified [RCV004121551] | Chr8:141472953 [GRCh38] Chr8:142483053 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2436G>C (p.Glu812Asp) | single nucleotide variant | not specified [RCV004157910] | Chr8:141466450 [GRCh38] Chr8:142476550 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3293T>A (p.Val1098Glu) | single nucleotide variant | not specified [RCV004174810] | Chr8:141436792 [GRCh38] Chr8:142446892 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3303G>A (p.Met1101Ile) | single nucleotide variant | not specified [RCV004184023] | Chr8:141436782 [GRCh38] Chr8:142446882 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3239G>A (p.Gly1080Glu) | single nucleotide variant | not specified [RCV004173780] | Chr8:141436846 [GRCh38] Chr8:142446946 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3024C>G (p.Ser1008Arg) | single nucleotide variant | not specified [RCV004165738] | Chr8:141441197 [GRCh38] Chr8:142451297 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2072C>T (p.Ala691Val) | single nucleotide variant | not specified [RCV004147707] | Chr8:141470697 [GRCh38] Chr8:142480797 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1151G>A (p.Gly384Asp) | single nucleotide variant | not specified [RCV004196444] | Chr8:141478710 [GRCh38] Chr8:142488810 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3160A>C (p.Ser1054Arg) | single nucleotide variant | not specified [RCV004165778] | Chr8:141440288 [GRCh38] Chr8:142450388 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.544G>A (p.Glu182Lys) | single nucleotide variant | not specified [RCV004092365] | Chr8:141490270 [GRCh38] Chr8:142500370 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1616C>T (p.Thr539Met) | single nucleotide variant | not specified [RCV004147184] | Chr8:141475977 [GRCh38] Chr8:142486077 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.2811C>G (p.Ser937Arg) | single nucleotide variant | not specified [RCV004215964] | Chr8:141447915 [GRCh38] Chr8:142458015 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1604G>A (p.Arg535Gln) | single nucleotide variant | not specified [RCV004205522] | Chr8:141475989 [GRCh38] Chr8:142486089 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2924C>T (p.Thr975Ile) | single nucleotide variant | not specified [RCV004244441] | Chr8:141441675 [GRCh38] Chr8:142451775 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3172C>T (p.Arg1058Cys) | single nucleotide variant | not specified [RCV004195651] | Chr8:141440276 [GRCh38] Chr8:142450376 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.431G>A (p.Arg144Gln) | single nucleotide variant | not specified [RCV004094358] | Chr8:141494915 [GRCh38] Chr8:142505015 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1055G>A (p.Ser352Asn) | single nucleotide variant | not specified [RCV004173364] | Chr8:141479247 [GRCh38] Chr8:142489347 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2515C>A (p.Gln839Lys) | single nucleotide variant | not specified [RCV004197724] | Chr8:141449712 [GRCh38] Chr8:142459812 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1652G>T (p.Cys551Phe) | single nucleotide variant | not specified [RCV004158396] | Chr8:141475941 [GRCh38] Chr8:142486041 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1204G>A (p.Val402Met) | single nucleotide variant | not specified [RCV004223321] | Chr8:141478657 [GRCh38] Chr8:142488757 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.559G>A (p.Asp187Asn) | single nucleotide variant | not specified [RCV004280223] | Chr8:141490255 [GRCh38] Chr8:142500355 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3854G>A (p.Arg1285His) | single nucleotide variant | not specified [RCV004252106] | Chr8:141434553 [GRCh38] Chr8:142444653 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3823C>A (p.Leu1275Met) | single nucleotide variant | not specified [RCV004269114] | Chr8:141434584 [GRCh38] Chr8:142444684 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3329G>A (p.Arg1110His) | single nucleotide variant | not specified [RCV004271034] | Chr8:141436756 [GRCh38] Chr8:142446856 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3154G>A (p.Asp1052Asn) | single nucleotide variant | not specified [RCV004260817] | Chr8:141440294 [GRCh38] Chr8:142450394 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2499G>T (p.Arg833Ser) | single nucleotide variant | not specified [RCV004280410] | Chr8:141449728 [GRCh38] Chr8:142459828 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2522C>T (p.Thr841Met) | single nucleotide variant | not specified [RCV004270516] | Chr8:141449705 [GRCh38] Chr8:142459805 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3765G>C (p.Trp1255Cys) | single nucleotide variant | not specified [RCV004279107] | Chr8:141434840 [GRCh38] Chr8:142444940 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3577C>T (p.Arg1193Cys) | single nucleotide variant | not specified [RCV004257681] | Chr8:141435228 [GRCh38] Chr8:142445328 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.91C>T (p.Pro31Ser) | single nucleotide variant | not specified [RCV004252392] | Chr8:141496491 [GRCh38] Chr8:142506591 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2584G>A (p.Ala862Thr) | single nucleotide variant | not specified [RCV004269224] | Chr8:141449643 [GRCh38] Chr8:142459743 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2864C>T (p.Thr955Met) | single nucleotide variant | not specified [RCV004255540] | Chr8:141441735 [GRCh38] Chr8:142451835 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3173G>A (p.Arg1058His) | single nucleotide variant | not specified [RCV004290941] | Chr8:141440275 [GRCh38] Chr8:142450375 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2671C>T (p.Arg891Trp) | single nucleotide variant | not specified [RCV004334965] | Chr8:141448055 [GRCh38] Chr8:142458155 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1973G>A (p.Ser658Asn) | single nucleotide variant | not specified [RCV004344699] | Chr8:141471088 [GRCh38] Chr8:142481188 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1315G>A (p.Ala439Thr) | single nucleotide variant | not specified [RCV004342199] | Chr8:141477826 [GRCh38] Chr8:142487926 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3938C>T (p.Ser1313Leu) | single nucleotide variant | not specified [RCV004349511] | Chr8:141433977 [GRCh38] Chr8:142444077 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2951G>T (p.Gly984Val) | single nucleotide variant | not specified [RCV004363239] | Chr8:141441648 [GRCh38] Chr8:142451748 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1535C>T (p.Ala512Val) | single nucleotide variant | not specified [RCV004355926] | Chr8:141476058 [GRCh38] Chr8:142486158 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.2581G>A (p.Gly861Ser) | single nucleotide variant | not specified [RCV004335482] | Chr8:141449646 [GRCh38] Chr8:142459746 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.303C>A (p.Asp101Glu) | single nucleotide variant | not specified [RCV004358553] | Chr8:141495443 [GRCh38] Chr8:142505543 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:141825923-142558013)x4 | copy number gain | not provided [RCV003485353] | Chr8:141825923..142558013 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 | copy number gain | not provided [RCV003484752] | Chr8:141419599..146295771 [GRCh37] Chr8:8q24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:142452829-142859811)x3 | copy number gain | not provided [RCV003484753] | Chr8:142452829..142859811 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1591G>A (p.Val531Met) | single nucleotide variant | not provided [RCV003440701] | Chr8:141476002 [GRCh38] Chr8:142486102 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not specified [RCV003986742] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 | copy number gain | not provided [RCV003885521] | Chr8:113392581..146364022 [GRCh37] Chr8:8q23.3-24.3 |
pathogenic |
NM_207414.3(MROH5):c.44C>T (p.Thr15Met) | single nucleotide variant | not specified [RCV004497156] | Chr8:141507106 [GRCh38] Chr8:142517206 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.723G>T (p.Lys241Asn) | single nucleotide variant | not specified [RCV004497183] | Chr8:141488578 [GRCh38] Chr8:142498678 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1811G>A (p.Arg604Gln) | single nucleotide variant | not specified [RCV004496883] | Chr8:141472908 [GRCh38] Chr8:142483008 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3364G>C (p.Gly1122Arg) | single nucleotide variant | not specified [RCV004497064] | Chr8:141436721 [GRCh38] Chr8:142446821 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3485G>A (p.Arg1162Gln) | single nucleotide variant | not specified [RCV004497094] | Chr8:141435983 [GRCh38] Chr8:142446083 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1853A>G (p.His618Arg) | single nucleotide variant | not specified [RCV004496885] | Chr8:141472866 [GRCh38] Chr8:142482966 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2551G>C (p.Ala851Pro) | single nucleotide variant | not specified [RCV004496951] | Chr8:141449676 [GRCh38] Chr8:142459776 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3133G>A (p.Val1045Met) | single nucleotide variant | not specified [RCV004497003] | Chr8:141440315 [GRCh38] Chr8:142450415 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.994G>C (p.Gly332Arg) | single nucleotide variant | not specified [RCV004497194] | Chr8:141479308 [GRCh38] Chr8:142489408 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2018T>C (p.Leu673Ser) | single nucleotide variant | not specified [RCV004496908] | Chr8:141470751 [GRCh38] Chr8:142480851 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.2080T>G (p.Trp694Gly) | single nucleotide variant | not specified [RCV004496913] | Chr8:141470689 [GRCh38] Chr8:142480789 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.245G>T (p.Gly82Val) | single nucleotide variant | not specified [RCV004496938] | Chr8:141496337 [GRCh38] Chr8:142506437 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.92C>G (p.Pro31Arg) | single nucleotide variant | not specified [RCV004497189] | Chr8:141496490 [GRCh38] Chr8:142506590 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3308C>T (p.Thr1103Ile) | single nucleotide variant | not specified [RCV004497047] | Chr8:141436777 [GRCh38] Chr8:142446877 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1364T>C (p.Met455Thr) | single nucleotide variant | not specified [RCV004504346] | Chr8:141477777 [GRCh38] Chr8:142487877 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1373T>C (p.Met458Thr) | single nucleotide variant | not specified [RCV004504351] | Chr8:141477475 [GRCh38] Chr8:142487575 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1033G>A (p.Val345Ile) | single nucleotide variant | not specified [RCV004504298] | Chr8:141479269 [GRCh38] Chr8:142489369 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1327G>A (p.Glu443Lys) | single nucleotide variant | not specified [RCV004504340] | Chr8:141477814 [GRCh38] Chr8:142487914 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1952G>A (p.Arg651His) | single nucleotide variant | not specified [RCV004496900] | Chr8:141471109 [GRCh38] Chr8:142481209 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.2293G>A (p.Val765Ile) | single nucleotide variant | not specified [RCV004496924] | Chr8:141467428 [GRCh38] Chr8:142477528 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.1171C>T (p.Arg391Trp) | single nucleotide variant | not specified [RCV004504319] | Chr8:141478690 [GRCh38] Chr8:142488790 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2569C>T (p.Pro857Ser) | single nucleotide variant | not specified [RCV004496955] | Chr8:141449658 [GRCh38] Chr8:142459758 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3821T>A (p.Met1274Lys) | single nucleotide variant | not specified [RCV004497121] | Chr8:141434586 [GRCh38] Chr8:142444686 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1235G>C (p.Ser412Thr) | single nucleotide variant | not specified [RCV004504330] | Chr8:141478626 [GRCh38] Chr8:142488726 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1390G>A (p.Asp464Asn) | single nucleotide variant | not specified [RCV004504354] | Chr8:141477458 [GRCh38] Chr8:142487558 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1403C>T (p.Thr468Met) | single nucleotide variant | not specified [RCV004504359] | Chr8:141477445 [GRCh38] Chr8:142487545 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.1412G>A (p.Arg471His) | single nucleotide variant | not specified [RCV004504368] | Chr8:141477436 [GRCh38] Chr8:142487536 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2275G>A (p.Glu759Lys) | single nucleotide variant | not specified [RCV004496918] | Chr8:141467446 [GRCh38] Chr8:142477546 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.228G>T (p.Glu76Asp) | single nucleotide variant | not specified [RCV004496923] | Chr8:141496354 [GRCh38] Chr8:142506454 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.2413C>A (p.Leu805Met) | single nucleotide variant | not specified [RCV004496931] | Chr8:141466473 [GRCh38] Chr8:142476573 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3076A>G (p.Lys1026Glu) | single nucleotide variant | not specified [RCV004497002] | Chr8:141441145 [GRCh38] Chr8:142451245 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_207414.3(MROH5):c.3263G>T (p.Gly1088Val) | single nucleotide variant | not specified [RCV004497033] | Chr8:141436822 [GRCh38] Chr8:142446922 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3316G>C (p.Asp1106His) | single nucleotide variant | not specified [RCV004497053] | Chr8:141436769 [GRCh38] Chr8:142446869 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3383G>A (p.Arg1128His) | single nucleotide variant | not specified [RCV004497071] | Chr8:141436702 [GRCh38] Chr8:142446802 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3655C>T (p.Arg1219Cys) | single nucleotide variant | not specified [RCV004497104] | Chr8:141435150 [GRCh38] Chr8:142445250 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.3896G>A (p.Arg1299Gln) | single nucleotide variant | not specified [RCV004497138] | Chr8:141434019 [GRCh38] Chr8:142444119 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.3(MROH5):c.673G>A (p.Val225Met) | single nucleotide variant | not specified [RCV004497175] | Chr8:141490141 [GRCh38] Chr8:142500241 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.2770C>A | single nucleotide variant | not specified [RCV004643585] | Chr8:141447956 [GRCh38] Chr8:142458056 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.3035C>G | single nucleotide variant | not specified [RCV004643588] | Chr8:141441186 [GRCh38] Chr8:142451286 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.3328C>T | single nucleotide variant | not specified [RCV004643592] | Chr8:141436757 [GRCh38] Chr8:142446857 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.201C>G | single nucleotide variant | not specified [RCV004643593] | Chr8:141496381 [GRCh38] Chr8:142506481 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.1304G>T | single nucleotide variant | not specified [RCV004643595] | Chr8:141477837 [GRCh38] Chr8:142487937 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.3310G>A | single nucleotide variant | not specified [RCV004629138] | Chr8:141436775 [GRCh38] Chr8:142446875 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.515T>C | single nucleotide variant | not specified [RCV004643587] | Chr8:141494831 [GRCh38] Chr8:142504931 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.2087G>C | single nucleotide variant | not specified [RCV004643589] | Chr8:141470682 [GRCh38] Chr8:142480782 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.3251C>A | single nucleotide variant | not specified [RCV004631618] | Chr8:141436834 [GRCh38] Chr8:142446934 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.2672G>A | single nucleotide variant | not specified [RCV004643582] | Chr8:141448054 [GRCh38] Chr8:142458154 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.770C>T | single nucleotide variant | not specified [RCV004643584] | Chr8:141480429 [GRCh38] Chr8:142490529 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.2902G>C | single nucleotide variant | not specified [RCV004643594] | Chr8:141441697 [GRCh38] Chr8:142451797 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.3508G>A | single nucleotide variant | not specified [RCV004643586] | Chr8:141435960 [GRCh38] Chr8:142446060 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.3292G>A | single nucleotide variant | not specified [RCV004643596] | Chr8:141436793 [GRCh38] Chr8:142446893 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.2420G>A | single nucleotide variant | not specified [RCV004643581] | Chr8:141466466 [GRCh38] Chr8:142476566 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.2921C>A | single nucleotide variant | not specified [RCV004643590] | Chr8:141441678 [GRCh38] Chr8:142451778 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.1610G>C | single nucleotide variant | not specified [RCV004629136] | Chr8:141475983 [GRCh38] Chr8:142486083 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_207414.2(MROH5):c.407A>T | single nucleotide variant | not specified [RCV004629137] | Chr8:141495339 [GRCh38] Chr8:142505439 [GRCh37] Chr8:8q24.3 |
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 |
RH79822 |
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SHGC-148446 |
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SHGC-149588 |
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adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1124 | 2063 | 2564 | 2157 | 3733 | 1225 | 1604 | 296 | 737 | 176 | 1840 | 5122 | 4957 | 3 | 2909 | 541 | 1485 | 1186 | 123 |
Ensembl Acc Id: | ENST00000430863 ⟹ ENSP00000431031 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000521053 ⟹ ENSP00000429433 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000521161 ⟹ ENSP00000429440 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000523857 ⟹ ENSP00000427945 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000621837 ⟹ ENSP00000481783 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NR_102363 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_102364 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
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||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_160399 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
Ensembl Acc Id: | ENSP00000481783 ⟸ ENST00000621837 |
Ensembl Acc Id: | ENSP00000429440 ⟸ ENST00000521161 |
Ensembl Acc Id: | ENSP00000429433 ⟸ ENST00000521053 |
Ensembl Acc Id: | ENSP00000427945 ⟸ ENST00000523857 |
Ensembl Acc Id: | ENSP00000431031 ⟸ ENST00000430863 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6ZUA9-F1-model_v2 | AlphaFold | Q6ZUA9 | 1-1318 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:42976 | AgrOrtholog |
COSMIC | MROH5 | COSMIC |
Ensembl Genes | ENSG00000226807 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSG00000291473 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000430863 | ENTREZGENE |
ENST00000521053 | ENTREZGENE | |
ENST00000521053.5 | UniProtKB/TrEMBL | |
ENST00000523857 | ENTREZGENE | |
ENST00000523857.5 | UniProtKB/TrEMBL | |
ENST00000707624.1 | UniProtKB/TrEMBL | |
ENST00000707625.1 | UniProtKB/TrEMBL | |
ENST00000707626.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.25.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000226807 | GTEx |
ENSG00000291473 | GTEx | |
HGNC ID | HGNC:42976 | ENTREZGENE |
Human Proteome Map | MROH5 | Human Proteome Map |
InterPro | ARM-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ARM-type_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Maestro_heat-like_prot | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Maestro_HEAT_rpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:389690 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 389690 | ENTREZGENE |
PANTHER | MAESTRO HEAT-LIKE REPEAT FAMILY MEMBER 5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR23120 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Maestro_HEAT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA166049097 | PharmGKB |
Superfamily-SCOP | SSF48371 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | E5RFU7_HUMAN | UniProtKB/TrEMBL |
MROH5_HUMAN | UniProtKB/Swiss-Prot | |
Q6ZMW9_HUMAN | UniProtKB/TrEMBL | |
Q6ZUA9 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-01-15 | MROH5 | maestro heat like repeat family member 5 (gene/pseudogene) | maestro heat like repeat family member 5 | Symbol and/or name change | 5135510 | APPROVED | |
2016-01-26 | MROH5 | maestro heat like repeat family member 5 | maestro heat-like repeat family member 5 | Symbol and/or name change | 5135510 | APPROVED | |
2013-01-02 | MROH5 | maestro heat-like repeat family member 5 | FLJ43860 | FLJ43860 protein | Symbol and/or name change | 5135510 | APPROVED |