Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Sjogren's syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:24097067 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Sjogren's syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:24097067 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8617502 | PMID:8626538 | PMID:9099683 | PMID:9438377 | PMID:10066731 | PMID:11309392 | PMID:12477932 | PMID:12799190 | PMID:15632189 | PMID:16751776 | PMID:17664281 | PMID:18985386 |
PMID:19336002 | PMID:20057501 | PMID:20070850 | PMID:20736409 | PMID:21873635 | PMID:22438815 | PMID:22451204 | PMID:22627129 | PMID:22658674 | PMID:22732145 | PMID:22939629 | PMID:23091060 |
PMID:23610160 | PMID:23618683 | PMID:23767959 | PMID:23949095 | PMID:24369117 | PMID:25064009 | PMID:28514442 | PMID:30021884 | PMID:30745168 | PMID:31836314 | PMID:32296183 | PMID:33559030 |
PMID:33961781 | PMID:35748872 |
DGKQ (Homo sapiens - human) |
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Dgkq (Mus musculus - house mouse) |
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Dgkq (Rattus norvegicus - Norway rat) |
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Dgkq (Chinchilla lanigera - long-tailed chinchilla) |
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DGKQ (Pan paniscus - bonobo/pygmy chimpanzee) |
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DGKQ (Canis lupus familiaris - dog) |
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Dgkq (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DGKQ (Sus scrofa - pig) |
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DGKQ (Chlorocebus sabaeus - green monkey) |
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Dgkq (Heterocephalus glaber - naked mole-rat) |
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Variants in DGKQ
75 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 | copy number loss | See cases [RCV000050809] | Chr4:72555..2108607 [GRCh38] Chr4:72447..2110334 [GRCh37] Chr4:62447..2080132 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 | copy number gain | See cases [RCV000050834] | Chr4:620566..2958209 [GRCh38] Chr4:614355..2959936 [GRCh37] Chr4:604355..2929734 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 | copy number gain | See cases [RCV000050948] | Chr4:51519..3775116 [GRCh38] Chr4:51413..3776843 [GRCh37] Chr4:41413..3746641 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 | copy number gain | See cases [RCV000050906] | Chr4:51519..8222798 [GRCh38] Chr4:51413..8224525 [GRCh37] Chr4:41413..8275425 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-1405362)x3 | copy number gain | See cases [RCV000051563] | Chr4:72555..1405362 [GRCh38] Chr4:72447..1399150 [GRCh37] Chr4:62447..1389150 [NCBI36] Chr4:4p16.3 |
uncertain significance |
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 | copy number loss | See cases [RCV000051642] | Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 | copy number loss | See cases [RCV000051613] | Chr4:56878..3870653 [GRCh38] Chr4:56772..3872380 [GRCh37] Chr4:46772..3842178 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 | copy number loss | See cases [RCV000051614] | Chr4:56878..14499760 [GRCh38] Chr4:56772..14501384 [GRCh37] Chr4:46772..14110482 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 | copy number loss | See cases [RCV000051638] | Chr4:56878..2213205 [GRCh38] Chr4:56772..2214932 [GRCh37] Chr4:46772..2184730 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] | Chr4:72355..2108748 [GRCh38] Chr4:72247..2110475 [GRCh37] Chr4:62247..2080273 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 | copy number loss | See cases [RCV000051640] | Chr4:72355..2400359 [GRCh38] Chr4:72247..2402086 [GRCh37] Chr4:62247..2371884 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 | copy number loss | See cases [RCV000051641] | Chr4:72555..7829425 [GRCh38] Chr4:72447..7831152 [GRCh37] Chr4:62447..7882052 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] | Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 | copy number gain | See cases [RCV000051753] | Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 | copy number gain | See cases [RCV000051757] | Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 | copy number gain | See cases [RCV000051754] | Chr4:72555..5607083 [GRCh38] Chr4:72447..5608810 [GRCh37] Chr4:62447..5659711 [NCBI36] Chr4:4p16.3-16.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 | copy number gain | See cases [RCV000051755] | Chr4:85149..22450018 [GRCh38] Chr4:85040..22451641 [GRCh37] Chr4:75040..22060739 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] | Chr4:72555..2009034 [GRCh38] Chr4:72447..2010761 [GRCh37] Chr4:62447..1980559 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 | copy number loss | See cases [RCV000051671] | Chr4:72555..5034991 [GRCh38] Chr4:72447..5036718 [GRCh37] Chr4:62447..5087619 [NCBI36] Chr4:4p16.3-16.2 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] | Chr4:72555..10004195 [GRCh38] Chr4:72447..10005819 [GRCh37] Chr4:62447..9614917 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 | copy number gain | See cases [RCV000051756] | Chr4:85149..4596207 [GRCh38] Chr4:85040..4597934 [GRCh37] Chr4:75040..4648835 [NCBI36] Chr4:4p16.3-16.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] | Chr4:72555..11610824 [GRCh38] Chr4:72447..11612448 [GRCh37] Chr4:62447..11221546 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 | copy number gain | See cases [RCV000051675] | Chr4:72555..3847154 [GRCh38] Chr4:72447..3848881 [GRCh37] Chr4:62447..3818679 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] | Chr4:72555..3847154 [GRCh38] Chr4:72447..3848881 [GRCh37] Chr4:62447..3818679 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 | copy number loss | See cases [RCV000051677] | Chr4:72555..5212384 [GRCh38] Chr4:72447..5214111 [GRCh37] Chr4:62447..5265012 [NCBI36] Chr4:4p16.3-16.2 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 | copy number loss | See cases [RCV000051678] | Chr4:85149..7063699 [GRCh38] Chr4:85040..7065426 [GRCh37] Chr4:75040..7116327 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 | copy number loss | See cases [RCV000051679] | Chr4:85149..17486742 [GRCh38] Chr4:85040..17488365 [GRCh37] Chr4:75040..17097463 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 | copy number gain | See cases [RCV000051743] | Chr4:51319..10250807 [GRCh38] Chr4:51213..10252431 [GRCh37] Chr4:41213..9861529 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 | copy number loss | See cases [RCV000051643] | Chr4:72555..2325477 [GRCh38] Chr4:72447..2327204 [GRCh37] Chr4:62447..2297002 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 | copy number loss | See cases [RCV000051644] | Chr4:72555..3785385 [GRCh38] Chr4:72447..3787112 [GRCh37] Chr4:62447..3756910 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 | copy number loss | See cases [RCV000051645] | Chr4:72555..3206313 [GRCh38] Chr4:72447..3208040 [GRCh37] Chr4:62447..3177838 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 | copy number loss | See cases [RCV000051680] | Chr4:85149..7843616 [GRCh38] Chr4:85040..7845343 [GRCh37] Chr4:75040..7896243 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] | Chr4:72555..3460958 [GRCh38] Chr4:72447..3462685 [GRCh37] Chr4:62447..3432483 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 | copy number loss | See cases [RCV000051681] | Chr4:85149..4405782 [GRCh38] Chr4:85040..4407509 [GRCh37] Chr4:75040..4458410 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 | copy number loss | See cases [RCV000053259] | Chr4:85149..1919505 [GRCh38] Chr4:85040..1921232 [GRCh37] Chr4:75040..1891030 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 | copy number loss | See cases [RCV000053260] | Chr4:85149..2008535 [GRCh38] Chr4:85040..2010262 [GRCh37] Chr4:75040..1980060 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 | copy number loss | See cases [RCV000053261] | Chr4:336191..2213205 [GRCh38] Chr4:507005..2214932 [GRCh37] Chr4:319980..2184730 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 | copy number loss | See cases [RCV000133846] | Chr4:72555..5344810 [GRCh38] Chr4:72447..5346537 [GRCh37] Chr4:62447..5397438 [NCBI36] Chr4:4p16.3-16.2 |
pathogenic |
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 | copy number gain | See cases [RCV000133677] | Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:958618-1026629)x3 | copy number gain | See cases [RCV000134620] | Chr4:958618..1026629 [GRCh38] Chr4:952406..1020417 [GRCh37] Chr4:942406..1010417 [NCBI36] Chr4:4p16.3 |
benign|likely benign|conflicting data from submitters |
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 | copy number loss | See cases [RCV000135336] | Chr4:78578..10335613 [GRCh38] Chr4:78470..10337237 [GRCh37] Chr4:68470..9946335 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 | copy number loss | See cases [RCV000135317] | Chr4:78578..3363219 [GRCh38] Chr4:78470..3364946 [GRCh37] Chr4:68470..3334744 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 | copy number gain | See cases [RCV000135349] | Chr4:78578..15625573 [GRCh38] Chr4:78470..15627196 [GRCh37] Chr4:68470..15236294 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 | copy number loss | See cases [RCV000134785] | Chr4:37335..3775112 [GRCh38] Chr4:37336..3776839 [GRCh37] Chr4:27336..3746637 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:620566-1405362)x3 | copy number gain | See cases [RCV000135648] | Chr4:620566..1405362 [GRCh38] Chr4:614355..1399150 [GRCh37] Chr4:604355..1389150 [NCBI36] Chr4:4p16.3 |
uncertain significance |
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 | copy number loss | See cases [RCV000135657] | Chr4:72555..17278013 [GRCh38] Chr4:72447..17279636 [GRCh37] Chr4:62447..16888734 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 | copy number loss | See cases [RCV000135436] | Chr4:135972..9369341 [GRCh38] Chr4:129753..9371067 [GRCh37] Chr4:119753..8980165 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 | copy number loss | See cases [RCV000135584] | Chr4:72555..4888108 [GRCh38] Chr4:72447..4889835 [GRCh37] Chr4:62447..4940736 [NCBI36] Chr4:4p16.3-16.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 | copy number loss | See cases [RCV000135532] | Chr4:72555..15658035 [GRCh38] Chr4:72447..15659658 [GRCh37] Chr4:62447..15268756 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 | copy number loss | See cases [RCV000136572] | Chr4:72555..6243425 [GRCh38] Chr4:72447..6245152 [GRCh37] Chr4:62447..6296053 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|likely pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 | copy number loss | See cases [RCV000135992] | Chr4:37335..9369258 [GRCh38] Chr4:37336..9370984 [GRCh37] Chr4:27336..8980082 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 | copy number loss | See cases [RCV000136844] | Chr4:72555..4358718 [GRCh38] Chr4:72447..4360445 [GRCh37] Chr4:62447..4411346 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 | copy number loss | See cases [RCV000137036] | Chr4:72555..10250666 [GRCh38] Chr4:72447..10252290 [GRCh37] Chr4:62447..9861388 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 | copy number gain | See cases [RCV000137071] | Chr4:51519..17798196 [GRCh38] Chr4:51413..17799819 [GRCh37] Chr4:41413..17408917 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 | copy number loss | See cases [RCV000136930] | Chr4:72555..3724047 [GRCh38] Chr4:72447..3725774 [GRCh37] Chr4:62447..3695572 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-1153038)x1 | copy number loss | See cases [RCV000137135] | Chr4:72555..1153038 [GRCh38] Chr4:72447..1146826 [GRCh37] Chr4:62447..1136826 [NCBI36] Chr4:4p16.3 |
likely benign|uncertain significance |
GRCh38/hg38 4p16.3(chr4:51519-1405362)x1 | copy number loss | See cases [RCV000136895] | Chr4:51519..1405362 [GRCh38] Chr4:51413..1399150 [GRCh37] Chr4:41413..1389150 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 | copy number loss | See cases [RCV000136730] | Chr4:72555..3561655 [GRCh38] Chr4:72447..3563382 [GRCh37] Chr4:62447..3533180 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:36424-1581567)x3 | copy number gain | See cases [RCV000137386] | Chr4:36424..1581567 [GRCh38] Chr4:36424..1583294 [GRCh37] Chr4:26424..1553260 [NCBI36] Chr4:4p16.3 |
likely pathogenic |
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 | copy number gain | See cases [RCV000137261] | Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 | copy number loss | See cases [RCV000138198] | Chr4:72555..12898612 [GRCh38] Chr4:72447..12900236 [GRCh37] Chr4:62447..12509334 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 | copy number gain | See cases [RCV000138305] | Chr4:72555..21022414 [GRCh38] Chr4:72447..21024037 [GRCh37] Chr4:62447..20633135 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 | copy number loss | See cases [RCV000138227] | Chr4:36424..9369341 [GRCh38] Chr4:36424..9371067 [GRCh37] Chr4:26424..8980165 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 | copy number gain | See cases [RCV000139432] | Chr4:36424..4097002 [GRCh38] Chr4:36424..4098729 [GRCh37] Chr4:26424..4149630 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-1581567)x1 | copy number loss | See cases [RCV000139439] | Chr4:72555..1581567 [GRCh38] Chr4:72447..1583294 [GRCh37] Chr4:62447..1553260 [NCBI36] Chr4:4p16.3 |
uncertain significance |
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 | copy number loss | See cases [RCV000139441] | Chr4:36424..3974044 [GRCh38] Chr4:36424..3975771 [GRCh37] Chr4:26424..4026672 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 | copy number loss | See cases [RCV000139019] | Chr4:36424..3265531 [GRCh38] Chr4:36424..3267258 [GRCh37] Chr4:26424..3237056 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:958677-1026629)x4 | copy number gain | See cases [RCV000140384] | Chr4:958677..1026629 [GRCh38] Chr4:952465..1020417 [GRCh37] Chr4:942465..1010417 [NCBI36] Chr4:4p16.3 |
benign |
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 | copy number loss | See cases [RCV000139551] | Chr4:37335..15869056 [GRCh38] Chr4:37336..15870679 [GRCh37] Chr4:27336..15479777 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 | copy number loss | See cases [RCV000141882] | Chr4:68453..1997458 [GRCh38] Chr4:68345..1999185 [GRCh37] Chr4:58345..1968983 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 | copy number loss | See cases [RCV000142951] | Chr4:36424..7359817 [GRCh38] Chr4:36424..7361544 [GRCh37] Chr4:26424..7412445 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|likely benign |
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 | copy number loss | See cases [RCV000143377] | Chr4:68453..8730129 [GRCh38] Chr4:68345..8731855 [GRCh37] Chr4:58345..8782755 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 | copy number loss | See cases [RCV000143324] | Chr4:72555..2689579 [GRCh38] Chr4:72447..2691306 [GRCh37] Chr4:62447..2661104 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:36424-1562150)x1 | copy number loss | See cases [RCV000143217] | Chr4:36424..1562150 [GRCh38] Chr4:36424..1563877 [GRCh37] Chr4:26424..1533937 [NCBI36] Chr4:4p16.3 |
uncertain significance |
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 | copy number loss | See cases [RCV000143247] | Chr4:36424..3881330 [GRCh38] Chr4:36424..3883057 [GRCh37] Chr4:26424..3852855 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 | copy number loss | See cases [RCV000143172] | Chr4:36424..1956092 [GRCh38] Chr4:36424..1957819 [GRCh37] Chr4:26424..1927617 [NCBI36] Chr4:4p16.3 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 | copy number loss | See cases [RCV000143686] | Chr4:68453..14612453 [GRCh38] Chr4:68345..14614077 [GRCh37] Chr4:58345..14223175 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 | copy number loss | See cases [RCV000143713] | Chr4:68453..20385608 [GRCh38] Chr4:68345..20387231 [GRCh37] Chr4:58345..19996329 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 | copy number loss | See cases [RCV000143547] | Chr4:68453..6055026 [GRCh38] Chr4:68345..6056753 [GRCh37] Chr4:58345..6107654 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 | copy number loss | See cases [RCV000148263] | Chr4:72555..2108607 [GRCh38] Chr4:72447..2110334 [GRCh37] Chr4:62447..2080132 [NCBI36] Chr4:4p16.3 |
pathogenic |
Single allele | complex | Heart, malformation of [RCV002280661] | Chr4:68345..1870548 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 | copy number loss | See cases [RCV000203431] | Chr4:44020..19796182 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) | copy number loss | 4p partial monosomy syndrome [RCV000767672] | Chr4:75742..8672411 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 | copy number loss | See cases [RCV000240003] | Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:586039-964873)x3 | copy number gain | See cases [RCV000240015] | Chr4:586039..964873 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 | copy number loss | See cases [RCV000239427] | Chr4:49450..8872474 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 | copy number gain | See cases [RCV000240562] | Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 | copy number gain | See cases [RCV000240481] | Chr4:127233..8667610 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | See cases [RCV000449078] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-1512353) | copy number loss | Global developmental delay [RCV002280748] | Chr4:68345..1512353 [GRCh37] Chr4:4p16.3 |
likely pathogenic |
NM_001347.4(DGKQ):c.1526G>A (p.Gly509Asp) | single nucleotide variant | Inborn genetic diseases [RCV003243582] | Chr4:965981 [GRCh38] Chr4:959769 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | See cases [RCV002292704] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 | copy number loss | See cases [RCV000449197] | Chr4:68345..20533787 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 | copy number loss | See cases [RCV000449467] | Chr4:68345..2126308 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 | copy number loss | See cases [RCV000447208] | Chr4:68345..2155022 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 | copy number loss | See cases [RCV000446287] | Chr4:68345..15197147 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 | copy number gain | See cases [RCV000446451] | Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 | copy number gain | See cases [RCV000447633] | Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 | copy number loss | See cases [RCV000449010] | Chr4:68345..2502977 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 | copy number loss | See cases [RCV000448933] | Chr4:71552..15302739 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 | copy number loss | See cases [RCV000447910] | Chr4:29214..1925508 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 | copy number gain | See cases [RCV000512063] | Chr4:68345..3713599 [GRCh37] Chr4:4p16.3 |
likely pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 | copy number loss | See cases [RCV000512104] | Chr4:68345..10336032 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 | copy number loss | See cases [RCV000510662] | Chr4:68345..15973383 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 | copy number gain | See cases [RCV000510565] | Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
likely pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 | copy number loss | See cases [RCV000510596] | Chr4:68345..4044985 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 | copy number loss | See cases [RCV000511351] | Chr4:68345..13770107 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 | copy number loss | See cases [RCV000511691] | Chr4:68345..5319773 [GRCh37] Chr4:4p16.3-16.2 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:910410-1798461)x3 | copy number gain | See cases [RCV000510819] | Chr4:910410..1798461 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3(chr4:68345-1677853)x1 | copy number loss | See cases [RCV000511217] | Chr4:68345..1677853 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 | copy number gain | See cases [RCV000511193] | Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 | copy number loss | See cases [RCV000512438] | Chr4:68345..3891984 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | not provided [RCV000682363] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:917519-1385258)x3 | copy number gain | not provided [RCV000682365] | Chr4:917519..1385258 [GRCh37] Chr4:4p16.3 |
uncertain significance |
Single allele | duplication | not provided [RCV000677909] | Chr4:12440..1583294 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:11525-973036)x1 | copy number loss | not provided [RCV000743146] | Chr4:11525..973036 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:941924-1031844)x3 | copy number gain | not provided [RCV000743176] | Chr4:941924..1031844 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:942006-1045265)x3 | copy number gain | not provided [RCV000743177] | Chr4:942006..1045265 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:946226-1037125)x3 | copy number gain | not provided [RCV000743178] | Chr4:946226..1037125 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:947024-1019101)x3 | copy number gain | not provided [RCV000743179] | Chr4:947024..1019101 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:947024-1033685)x3 | copy number gain | not provided [RCV000743180] | Chr4:947024..1033685 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:947024-1045265)x3 | copy number gain | not provided [RCV000743181] | Chr4:947024..1045265 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:947035-1019101)x3 | copy number gain | not provided [RCV000743182] | Chr4:947035..1019101 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:947035-1019312)x3 | copy number gain | not provided [RCV000743183] | Chr4:947035..1019312 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:947035-1033685)x3 | copy number gain | not provided [RCV000743184] | Chr4:947035..1033685 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:947035-1045265)x3 | copy number gain | not provided [RCV000743185] | Chr4:947035..1045265 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:951746-1045265)x3 | copy number gain | not provided [RCV000743186] | Chr4:951746..1045265 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:954422-1019312)x3 | copy number gain | not provided [RCV000743187] | Chr4:954422..1019312 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:954449-985076)x1 | copy number loss | not provided [RCV000743188] | Chr4:954449..985076 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:954449-985418)x1 | copy number loss | not provided [RCV000743189] | Chr4:954449..985418 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:954449-1019312)x3 | copy number gain | not provided [RCV000743190] | Chr4:954449..1019312 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1 | copy number loss | not provided [RCV000743153] | Chr4:49450..2010397 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 | copy number gain | not provided [RCV000743154] | Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
NM_001347.4(DGKQ):c.165C>T (p.Pro55=) | single nucleotide variant | not provided [RCV000965668] | Chr4:973318 [GRCh38] Chr4:967106 [GRCh37] Chr4:4p16.3 |
benign |
NM_001347.4(DGKQ):c.1490C>T (p.Pro497Leu) | single nucleotide variant | Inborn genetic diseases [RCV003244797] | Chr4:966017 [GRCh38] Chr4:959805 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1465G>A (p.Val489Met) | single nucleotide variant | not provided [RCV000839750] | Chr4:966042 [GRCh38] Chr4:959830 [GRCh37] Chr4:4p16.3 |
likely benign |
GRCh37/hg19 4p16.3(chr4:850700-965829)x3 | copy number gain | not provided [RCV000847572] | Chr4:850700..965829 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 | copy number loss | See cases [RCV001007422] | Chr4:49450..24280482 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 | copy number gain | not provided [RCV000847002] | Chr4:68345..4051616 [GRCh37] Chr4:4p16.3 |
pathogenic |
NM_001347.4(DGKQ):c.2234A>G (p.Tyr745Cys) | single nucleotide variant | Inborn genetic diseases [RCV003290598] | Chr4:962063 [GRCh38] Chr4:955851 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1889T>C (p.Leu630Pro) | single nucleotide variant | Inborn genetic diseases [RCV003275069] | Chr4:962918 [GRCh38] Chr4:956706 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NC_000004.11:g.(?_520808)_(1020391_?)del | deletion | Intellectual disability, autosomal recessive 53 [RCV003105432] | Chr4:520808..1020391 [GRCh37] Chr4:4p16.3 |
pathogenic |
NM_001347.4(DGKQ):c.1243G>C (p.Val415Leu) | single nucleotide variant | Inborn genetic diseases [RCV003292304] | Chr4:967032 [GRCh38] Chr4:960820 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2316-10C>T | single nucleotide variant | not provided [RCV000974603] | Chr4:961844 [GRCh38] Chr4:955632 [GRCh37] Chr4:4p16.3 |
benign |
NM_001347.4(DGKQ):c.2190C>T (p.Asp730=) | single nucleotide variant | not provided [RCV000956166] | Chr4:962459 [GRCh38] Chr4:956247 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 | copy number gain | not provided [RCV001537928] | Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_001347.4(DGKQ):c.1367-16G>C | single nucleotide variant | not provided [RCV001687140] | Chr4:966543 [GRCh38] Chr4:960331 [GRCh37] Chr4:4p16.3 |
benign |
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 | copy number loss | not provided [RCV001005511] | Chr4:68345..9768141 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 | copy number loss | not provided [RCV001005512] | Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 | copy number loss | not provided [RCV001005514] | Chr4:68345..10312798 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 | copy number loss | not provided [RCV001537927] | Chr4:68598..18912995 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 | copy number gain | See cases [RCV001194594] | Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 | copy number loss | not provided [RCV001005508] | Chr4:68345..2786584 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 | copy number gain | not provided [RCV001005510] | Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 | copy number loss | not provided [RCV001005513] | Chr4:68345..6984507 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:1-1328868)x1 | copy number loss | not provided [RCV001258632] | Chr4:1..1328868 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:794088-1179515)x1 | copy number loss | not provided [RCV001258639] | Chr4:794088..1179515 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 | copy number loss | not provided [RCV001258644] | Chr4:68345..5831521 [GRCh37] Chr4:4p16.3-16.2 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-1109959)x1 | copy number loss | not provided [RCV001258641] | Chr4:68345..1109959 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 | copy number loss | not provided [RCV001258643] | Chr4:68345..5046326 [GRCh37] Chr4:4p16.3-16.2 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 | copy number loss | not provided [RCV001258634] | Chr4:68345..2137211 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:687413-1054539)x3 | copy number gain | not provided [RCV001258636] | Chr4:687413..1054539 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 | copy number gain | not provided [RCV001258635] | Chr4:68345..2503033 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:388344-3872380) | copy number loss | Fetal growth restriction [RCV001352672] | Chr4:388344..3872380 [GRCh37] Chr4:4p16.3 |
pathogenic |
NC_000004.11:g.(?_493125)_(998181_?)del | deletion | Intellectual disability, autosomal recessive 53 [RCV001382628] | Chr4:493125..998181 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 | copy number loss | not provided [RCV001829146] | Chr4:68345..20587167 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:813393-1001282)x3 | copy number gain | not provided [RCV001834199] | Chr4:813393..1001282 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3(chr4:68345-1675143)x1 | copy number loss | not provided [RCV001834475] | Chr4:68345..1675143 [GRCh37] Chr4:4p16.3 |
pathogenic |
NC_000004.11:g.(?_493125)_(3495228_?)del | deletion | Fibrous dysplasia of jaw [RCV001943824] | Chr4:493125..3495228 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NC_000004.11:g.(?_493125)_(998181_?)dup | duplication | Intellectual disability, autosomal recessive 53 [RCV001877367] | Chr4:493125..998181 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NC_000004.11:g.(?_493125)_(2886413_?)del | deletion | Mucopolysaccharidosis type 1 [RCV001960721] | Chr4:493125..2886413 [GRCh37] Chr4:4p16.3 |
pathogenic |
NC_000004.11:g.(?_493125)_(2065854_?)del | deletion | not provided [RCV001975185] | Chr4:493125..2065854 [GRCh37] Chr4:4p16.3 |
pathogenic |
NC_000004.11:g.(?_493125)_(3495228_?)dup | duplication | Fibrous dysplasia of jaw [RCV003113187] | Chr4:493125..3495228 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NC_000004.11:g.(?_493125)_(1843544_?)del | deletion | not provided [RCV003119410] | Chr4:493125..1843544 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 | copy number loss | See cases [RCV002286359] | Chr4:68345..20964575 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 | copy number gain | FETAL DEMISE [RCV002282978] | Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 | copy number loss | See cases [RCV002286339] | Chr4:68345..5579467 [GRCh37] Chr4:4p16.3-16.2 |
pathogenic |
NM_001347.4(DGKQ):c.1324G>C (p.Glu442Gln) | single nucleotide variant | Inborn genetic diseases [RCV003282477] | Chr4:966790 [GRCh38] Chr4:960578 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1135T>C (p.Ser379Pro) | single nucleotide variant | Inborn genetic diseases [RCV003304698] | Chr4:967214 [GRCh38] Chr4:961002 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 | copy number gain | not provided [RCV002473933] | Chr4:963688..2913553 [GRCh37] Chr4:4p16.3 |
likely pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 | copy number loss | not provided [RCV002473938] | Chr4:1..12785001 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 | copy number loss | not provided [RCV002472653] | Chr4:68346..2437290 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 | copy number loss | not provided [RCV002473869] | Chr4:68346..12369983 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_001347.4(DGKQ):c.2629T>C (p.Phe877Leu) | single nucleotide variant | Inborn genetic diseases [RCV003264982] | Chr4:961147 [GRCh38] Chr4:954935 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1670T>C (p.Met557Thr) | single nucleotide variant | Inborn genetic diseases [RCV002684042] | Chr4:965240 [GRCh38] Chr4:959028 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.566G>C (p.Gly189Ala) | single nucleotide variant | Inborn genetic diseases [RCV002727377] | Chr4:968379 [GRCh38] Chr4:962167 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2060G>A (p.Arg687His) | single nucleotide variant | Inborn genetic diseases [RCV002905618] | Chr4:962589 [GRCh38] Chr4:956377 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.472C>T (p.Pro158Ser) | single nucleotide variant | Inborn genetic diseases [RCV002946884] | Chr4:968544 [GRCh38] Chr4:962332 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1473G>C (p.Glu491Asp) | single nucleotide variant | Inborn genetic diseases [RCV002997801] | Chr4:966034 [GRCh38] Chr4:959822 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2408G>A (p.Arg803Gln) | single nucleotide variant | Inborn genetic diseases [RCV002968264] | Chr4:961742 [GRCh38] Chr4:955530 [GRCh37] Chr4:4p16.3 |
likely benign |
NM_001347.4(DGKQ):c.809C>T (p.Pro270Leu) | single nucleotide variant | Inborn genetic diseases [RCV002728935] | Chr4:967882 [GRCh38] Chr4:961670 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.70G>A (p.Ala24Thr) | single nucleotide variant | Inborn genetic diseases [RCV002970364] | Chr4:973413 [GRCh38] Chr4:967201 [GRCh37] Chr4:4p16.3 |
likely benign |
NM_001347.4(DGKQ):c.847G>T (p.Val283Leu) | single nucleotide variant | Inborn genetic diseases [RCV002859614] | Chr4:967767 [GRCh38] Chr4:961555 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.903G>T (p.Lys301Asn) | single nucleotide variant | Inborn genetic diseases [RCV002864202] | Chr4:967633 [GRCh38] Chr4:961421 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.70G>T (p.Ala24Ser) | single nucleotide variant | Inborn genetic diseases [RCV002705018] | Chr4:973413 [GRCh38] Chr4:967201 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2338G>A (p.Val780Met) | single nucleotide variant | Inborn genetic diseases [RCV002758106] | Chr4:961812 [GRCh38] Chr4:955600 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1237G>A (p.Val413Met) | single nucleotide variant | Inborn genetic diseases [RCV002693824] | Chr4:967038 [GRCh38] Chr4:960826 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.505C>T (p.Arg169Cys) | single nucleotide variant | Inborn genetic diseases [RCV002924947] | Chr4:968511 [GRCh38] Chr4:962299 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1625T>C (p.Val542Ala) | single nucleotide variant | Inborn genetic diseases [RCV002823095] | Chr4:965285 [GRCh38] Chr4:959073 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.578C>T (p.Ser193Leu) | single nucleotide variant | Inborn genetic diseases [RCV002691795] | Chr4:968367 [GRCh38] Chr4:962155 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1132G>A (p.Gly378Arg) | single nucleotide variant | Inborn genetic diseases [RCV002758028] | Chr4:967217 [GRCh38] Chr4:961005 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.555C>G (p.His185Gln) | single nucleotide variant | Inborn genetic diseases [RCV002887543] | Chr4:968390 [GRCh38] Chr4:962178 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1757G>C (p.Ser586Thr) | single nucleotide variant | Inborn genetic diseases [RCV002998605] | Chr4:963268 [GRCh38] Chr4:957056 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.740C>T (p.Ala247Val) | single nucleotide variant | Inborn genetic diseases [RCV002783084] | Chr4:967951 [GRCh38] Chr4:961739 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1547G>C (p.Ser516Thr) | single nucleotide variant | Inborn genetic diseases [RCV002712539] | Chr4:965960 [GRCh38] Chr4:959748 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1693C>T (p.Arg565Trp) | single nucleotide variant | Inborn genetic diseases [RCV002830909] | Chr4:965217 [GRCh38] Chr4:959005 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.953C>A (p.Thr318Lys) | single nucleotide variant | Inborn genetic diseases [RCV002768281] | Chr4:967583 [GRCh38] Chr4:961371 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1270C>T (p.Arg424Cys) | single nucleotide variant | Inborn genetic diseases [RCV002640783] | Chr4:967005 [GRCh38] Chr4:960793 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.998T>C (p.Leu333Pro) | single nucleotide variant | Inborn genetic diseases [RCV002827730] | Chr4:967351 [GRCh38] Chr4:961139 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1169G>A (p.Arg390Gln) | single nucleotide variant | Inborn genetic diseases [RCV002640940] | Chr4:967180 [GRCh38] Chr4:960968 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2125G>A (p.Ala709Thr) | single nucleotide variant | Inborn genetic diseases [RCV002697205] | Chr4:962524 [GRCh38] Chr4:956312 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2192C>T (p.Thr731Met) | single nucleotide variant | Inborn genetic diseases [RCV002985129] | Chr4:962457 [GRCh38] Chr4:956245 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1837C>G (p.Leu613Val) | single nucleotide variant | Inborn genetic diseases [RCV002854011] | Chr4:963188 [GRCh38] Chr4:956976 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.709G>A (p.Gly237Arg) | single nucleotide variant | Inborn genetic diseases [RCV002875333] | Chr4:967982 [GRCh38] Chr4:961770 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2366A>G (p.His789Arg) | single nucleotide variant | Inborn genetic diseases [RCV002788947] | Chr4:961784 [GRCh38] Chr4:955572 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2404G>C (p.Glu802Gln) | single nucleotide variant | Inborn genetic diseases [RCV002697007] | Chr4:961746 [GRCh38] Chr4:955534 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.752T>C (p.Leu251Pro) | single nucleotide variant | Inborn genetic diseases [RCV002766965] | Chr4:967939 [GRCh38] Chr4:961727 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1159T>A (p.Trp387Arg) | single nucleotide variant | Inborn genetic diseases [RCV002788319] | Chr4:967190 [GRCh38] Chr4:960978 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.970G>A (p.Gly324Ser) | single nucleotide variant | Inborn genetic diseases [RCV002985849] | Chr4:967566 [GRCh38] Chr4:961354 [GRCh37] Chr4:4p16.3 |
likely benign |
NM_001347.4(DGKQ):c.506G>T (p.Arg169Leu) | single nucleotide variant | Inborn genetic diseases [RCV002896059] | Chr4:968510 [GRCh38] Chr4:962298 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.85C>G (p.Leu29Val) | single nucleotide variant | Inborn genetic diseases [RCV002768863] | Chr4:973398 [GRCh38] Chr4:967186 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.953C>T (p.Thr318Met) | single nucleotide variant | Inborn genetic diseases [RCV002674888] | Chr4:967583 [GRCh38] Chr4:961371 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2350C>A (p.Leu784Met) | single nucleotide variant | Inborn genetic diseases [RCV002807674] | Chr4:961800 [GRCh38] Chr4:955588 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1700G>A (p.Arg567Gln) | single nucleotide variant | Inborn genetic diseases [RCV002769460] | Chr4:965210 [GRCh38] Chr4:958998 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1927G>A (p.Val643Met) | single nucleotide variant | Inborn genetic diseases [RCV002920759] | Chr4:962880 [GRCh38] Chr4:956668 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2371C>T (p.Arg791Trp) | single nucleotide variant | Inborn genetic diseases [RCV002648257] | Chr4:961779 [GRCh38] Chr4:955567 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1796G>A (p.Gly599Asp) | single nucleotide variant | Inborn genetic diseases [RCV002812966] | Chr4:963229 [GRCh38] Chr4:957017 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.659T>C (p.Val220Ala) | single nucleotide variant | Inborn genetic diseases [RCV002900858] | Chr4:968286 [GRCh38] Chr4:962074 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.933A>C (p.Arg311Ser) | single nucleotide variant | Inborn genetic diseases [RCV002655575] | Chr4:967603 [GRCh38] Chr4:961391 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.2782G>A (p.Asp928Asn) | single nucleotide variant | Inborn genetic diseases [RCV002656468] | Chr4:960667 [GRCh38] Chr4:954455 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.265T>C (p.Cys89Arg) | single nucleotide variant | Inborn genetic diseases [RCV002724427] | Chr4:973218 [GRCh38] Chr4:967006 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.994G>A (p.Ala332Thr) | single nucleotide variant | Inborn genetic diseases [RCV002679924] | Chr4:967355 [GRCh38] Chr4:961143 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1843C>T (p.Pro615Ser) | single nucleotide variant | Inborn genetic diseases [RCV003185417] | Chr4:963182 [GRCh38] Chr4:956970 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.490G>A (p.Ala164Thr) | single nucleotide variant | Inborn genetic diseases [RCV003219615] | Chr4:968526 [GRCh38] Chr4:962314 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1475G>A (p.Ser492Asn) | single nucleotide variant | Inborn genetic diseases [RCV003207059] | Chr4:966032 [GRCh38] Chr4:959820 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1310A>C (p.Gln437Pro) | single nucleotide variant | Inborn genetic diseases [RCV003200563] | Chr4:966965 [GRCh38] Chr4:960753 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) | copy number gain | 4p16.3 microduplication syndrome [RCV003319592] | Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_001347.4(DGKQ):c.961C>T (p.Arg321Cys) | single nucleotide variant | Inborn genetic diseases [RCV003310371] | Chr4:967575 [GRCh38] Chr4:961363 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 | copy number gain | Neurodevelopmental disorder [RCV003327611] | Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11 |
pathogenic |
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 | copy number gain | Neurodevelopmental disorder [RCV003327613] | Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 | copy number loss | not provided [RCV003334269] | Chr4:85622..16900108 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
NM_001347.4(DGKQ):c.1424G>A (p.Arg475Gln) | single nucleotide variant | Inborn genetic diseases [RCV003357335] | Chr4:966470 [GRCh38] Chr4:960258 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.637G>A (p.Val213Met) | single nucleotide variant | Inborn genetic diseases [RCV003378826] | Chr4:968308 [GRCh38] Chr4:962096 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.817G>A (p.Gly273Arg) | single nucleotide variant | Inborn genetic diseases [RCV003352316] | Chr4:967797 [GRCh38] Chr4:961585 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1858G>A (p.Asp620Asn) | single nucleotide variant | Inborn genetic diseases [RCV003371581] | Chr4:963167 [GRCh38] Chr4:956955 [GRCh37] Chr4:4p16.3 |
uncertain significance |
NM_001347.4(DGKQ):c.1777G>A (p.Val593Met) | single nucleotide variant | Inborn genetic diseases [RCV003366593] | Chr4:963248 [GRCh38] Chr4:957036 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1 | copy number loss | not provided [RCV003485406] | Chr4:68346..2681414 [GRCh37] Chr4:4p16.3 |
pathogenic |
GRCh37/hg19 4p16.3(chr4:444267-1325962)x3 | copy number gain | not provided [RCV003484165] | Chr4:444267..1325962 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 | copy number gain | not provided [RCV003484164] | Chr4:68346..7171784 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_001347.4(DGKQ):c.2127C>T (p.Ala709=) | single nucleotide variant | not provided [RCV003439191] | Chr4:962522 [GRCh38] Chr4:956310 [GRCh37] Chr4:4p16.3 |
likely benign |
NM_001347.4(DGKQ):c.1524C>T (p.Pro508=) | single nucleotide variant | not provided [RCV003434912] | Chr4:965983 [GRCh38] Chr4:959771 [GRCh37] Chr4:4p16.3 |
likely benign |
NM_001347.4(DGKQ):c.200C>T (p.Thr67Met) | single nucleotide variant | Usher syndrome [RCV003389562] | Chr4:973283 [GRCh38] Chr4:967071 [GRCh37] Chr4:4p16.3 |
uncertain significance |
GRCh37/hg19 4p16.3(chr4:619416-1107252)x3 | copy number gain | not provided [RCV003435233] | Chr4:619416..1107252 [GRCh37] Chr4:4p16.3 |
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. |
A008Y17 |
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RH78064 |
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SHGC-68209 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1977 | 1620 | 1226 | 218 | 1205 | 88 | 3107 | 736 | 2783 | 159 | 1314 | 1482 | 146 | 823 | 1806 | 3 | ||
Low | 462 | 1371 | 500 | 406 | 734 | 377 | 1249 | 1461 | 950 | 260 | 146 | 131 | 29 | 1 | 381 | 982 | 3 | 2 |
Below cutoff | 9 |
RefSeq Transcripts | NM_001347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_011513411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011513412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011513414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011513415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449688 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054349062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054349063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054349064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054349065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054349066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054349067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002959715 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC019103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW139889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DN990411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ596864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GU727647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HM005661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT584792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L38707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000273814 ⟹ ENSP00000273814 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000502309 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000509465 ⟹ ENSP00000425862 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000510286 ⟹ ENSP00000427268 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000515182 ⟹ ENSP00000421756 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001347 ⟹ NP_001338 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011513411 ⟹ XP_011511713 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011513412 ⟹ XP_011511714 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011513414 ⟹ XP_011511716 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011513415 ⟹ XP_011511717 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047449687 ⟹ XP_047305643 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047449688 ⟹ XP_047305644 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054349062 ⟹ XP_054205037 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054349063 ⟹ XP_054205038 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054349064 ⟹ XP_054205039 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054349065 ⟹ XP_054205040 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054349066 ⟹ XP_054205041 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054349067 ⟹ XP_054205042 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001338 | (Get FASTA) | NCBI Sequence Viewer |
XP_011511713 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011511714 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011511716 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011511717 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305643 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305644 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054205037 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054205038 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054205039 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054205040 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054205041 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054205042 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA98749 | (Get FASTA) | NCBI Sequence Viewer |
AAH63801 | (Get FASTA) | NCBI Sequence Viewer | |
ADU87648 | (Get FASTA) | NCBI Sequence Viewer | |
AEE61258 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92740 | (Get FASTA) | NCBI Sequence Viewer | |
EAW82630 | (Get FASTA) | NCBI Sequence Viewer | |
EAW82631 | (Get FASTA) | NCBI Sequence Viewer | |
EAW82632 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000273814 | ||
ENSP00000273814.3 | |||
ENSP00000421756.1 | |||
ENSP00000425862.1 | |||
ENSP00000427268.1 | |||
GenBank Protein | P52824 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001338 ⟸ NM_001347 |
- UniProtKB: | Q6P3W4 (UniProtKB/Swiss-Prot), P52824 (UniProtKB/Swiss-Prot), A0A140VKC1 (UniProtKB/TrEMBL), E9KL49 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011511713 ⟸ XM_011513411 |
- Peptide Label: | isoform X2 |
- UniProtKB: | E9KL49 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011511714 ⟸ XM_011513412 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011511716 ⟸ XM_011513414 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_011511717 ⟸ XM_011513415 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | ENSP00000425862 ⟸ ENST00000509465 |
RefSeq Acc Id: | ENSP00000273814 ⟸ ENST00000273814 |
RefSeq Acc Id: | ENSP00000427268 ⟸ ENST00000510286 |
RefSeq Acc Id: | ENSP00000421756 ⟸ ENST00000515182 |
RefSeq Acc Id: | XP_047305643 ⟸ XM_047449687 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9KL49 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047305644 ⟸ XM_047449688 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054205038 ⟸ XM_054349063 |
- Peptide Label: | isoform X2 |
- UniProtKB: | E9KL49 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054205037 ⟸ XM_054349062 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9KL49 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054205039 ⟸ XM_054349064 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054205041 ⟸ XM_054349066 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054205040 ⟸ XM_054349065 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054205042 ⟸ XM_054349067 |
- Peptide Label: | isoform X5 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P52824-F1-model_v2 | AlphaFold | P52824 | 1-942 | view protein structure |
RGD ID: | 6812496 | ||||||||
Promoter ID: | HG_ACW:57783 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, K562 | ||||||||
Transcripts: | DGKQ.DAPR07 | ||||||||
Position: |
|
RGD ID: | 6802163 | ||||||||
Promoter ID: | HG_KWN:47640 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000405681, NM_001347, UC010IBN.1 | ||||||||
Position: |
|
RGD ID: | 6867110 | ||||||||
Promoter ID: | EPDNEW_H6563 | ||||||||
Type: | initiation region | ||||||||
Name: | DGKQ_1 | ||||||||
Description: | diacylglycerol kinase theta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H6564 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:2856 | AgrOrtholog |
COSMIC | DGKQ | COSMIC |
Ensembl Genes | ENSG00000145214 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000273814 | ENTREZGENE |
ENST00000273814.8 | UniProtKB/Swiss-Prot | |
ENST00000509465.5 | UniProtKB/TrEMBL | |
ENST00000510286.1 | UniProtKB/TrEMBL | |
ENST00000515182.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.200.40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.60.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000145214 | GTEx |
HGNC ID | HGNC:2856 | ENTREZGENE |
Human Proteome Map | DGKQ | Human Proteome Map |
InterPro | ATP-NAD_kinase_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
C1-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DAG/PE-bd | UniProtKB/TrEMBL | |
DGK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Diacylglycerol_kin_accessory | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Diacylglycerol_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NAD/diacylglycerol_kinase_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PE/DAG-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RA_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ubiquitin-like_domsf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:1609 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 1609 | ENTREZGENE |
OMIM | 601207 | OMIM |
PANTHER | DIACYLGLYCEROL KINASE THETA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11255 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | C1_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DAGK_acc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DAGK_cat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PF00788 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA27317 | PharmGKB |
PRINTS | DAGPEDOMAIN | UniProtKB/TrEMBL |
PROSITE | DAGK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PS50200 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZF_DAG_PE_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZF_DAG_PE_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | DAGKa | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DAGKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00109 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00314 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF111331 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF54236 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF57889 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A140VKC1 | ENTREZGENE, UniProtKB/TrEMBL |
D6RJB4_HUMAN | UniProtKB/TrEMBL | |
DGKQ_HUMAN | UniProtKB/Swiss-Prot | |
E9KL49 | ENTREZGENE, UniProtKB/TrEMBL | |
H0Y8Q7_HUMAN | UniProtKB/TrEMBL | |
H0YA20_HUMAN | UniProtKB/TrEMBL | |
P52824 | ENTREZGENE | |
Q59FF7_HUMAN | UniProtKB/TrEMBL | |
Q6P3W4 | ENTREZGENE | |
UniProt Secondary | Q6P3W4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-17 | DGKQ | diacylglycerol kinase theta | DGKQ | diacylglycerol kinase, theta 110kDa | Symbol and/or name change | 5135510 | APPROVED |