Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RAB18 | Human | Warburg micro syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RAB18 | Human | Warburg micro syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:7566098 | PMID:7706395 | PMID:8125298 | PMID:8889549 | PMID:10648831 | PMID:10931946 | PMID:11076863 | PMID:11230166 | PMID:11256614 | PMID:12477932 | PMID:12535645 | PMID:12800201 |
PMID:14702039 | PMID:15146197 | PMID:15164054 | PMID:15342556 | PMID:15489334 | PMID:15489336 | PMID:15914536 | PMID:16147880 | PMID:16169070 | PMID:16207721 | PMID:16381901 | PMID:16808905 |
PMID:17540176 | PMID:18349058 | PMID:18664496 | PMID:20351267 | PMID:20937701 | PMID:21473985 | PMID:21873635 | PMID:22810586 | PMID:23176487 | PMID:23376485 | PMID:23420520 | PMID:23471881 |
PMID:23798571 | PMID:23935497 | PMID:24239381 | PMID:24477653 | PMID:24696471 | PMID:24797263 | PMID:24891604 | PMID:24996981 | PMID:24997429 | PMID:25416956 | PMID:26063829 | PMID:26186194 |
PMID:26472760 | PMID:26618866 | PMID:26638075 | PMID:26949251 | PMID:27025967 | PMID:27451075 | PMID:27684187 | PMID:28003315 | PMID:28065597 | PMID:28342870 | PMID:28499918 | PMID:28514442 |
PMID:28515276 | PMID:28604741 | PMID:28656962 | PMID:28775156 | PMID:29180619 | PMID:29300443 | PMID:29509190 | PMID:29564676 | PMID:29949452 | PMID:30575818 | PMID:30830238 | PMID:30833792 |
PMID:30970241 | PMID:31091453 | PMID:31293035 | PMID:31527615 | PMID:31563421 | PMID:31610914 | PMID:31871319 | PMID:31980649 | PMID:32060556 | PMID:32248620 | PMID:32296183 | PMID:32353859 |
PMID:32525992 | PMID:32694731 | PMID:32740904 | PMID:33060197 | PMID:33144569 | PMID:33545068 | PMID:33567341 | PMID:33904378 | PMID:33916271 | PMID:33961781 | PMID:34079125 | PMID:34285210 |
PMID:34709727 | PMID:34901782 | PMID:35271311 | PMID:35439318 | PMID:35563538 | PMID:35944360 | PMID:36114006 | PMID:36215168 | PMID:36225252 | PMID:36244648 | PMID:36424410 | PMID:36517590 |
PMID:36574265 | PMID:37774976 | PMID:37827155 | PMID:38139006 |
RAB18 (Homo sapiens - human) |
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Rab18 (Mus musculus - house mouse) |
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Rab18 (Rattus norvegicus - Norway rat) |
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Rab18 (Chinchilla lanigera - long-tailed chinchilla) |
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RAB18 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB18 (Canis lupus familiaris - dog) |
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Rab18 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB18 (Sus scrofa - pig) |
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RAB18 (Chlorocebus sabaeus - green monkey) |
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Rab18 (Heterocephalus glaber - naked mole-rat) |
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Variants in RAB18
153 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) | single nucleotide variant | Warburg micro syndrome 3 [RCV000023171] | Chr10:27509877 [GRCh38] Chr10:27798806 [GRCh37] Chr10:10p12.1 |
pathogenic |
NG_032035.1:g.(5265_10701)_(10758_27654)del | deletion | Warburg micro syndrome 3 [RCV000023172] | Chr10:10p12.1 | pathogenic |
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del) | microsatellite | Warburg micro syndrome 3 [RCV000023173] | Chr10:27533748..27533750 [GRCh38] Chr10:27822677..27822679 [GRCh37] Chr10:10p12.1 |
pathogenic |
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) | single nucleotide variant | Warburg micro syndrome 3 [RCV000023174] | Chr10:27538049 [GRCh38] Chr10:27826978 [GRCh37] Chr10:10p12.1 |
pathogenic |
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) | single nucleotide variant | Warburg micro syndrome 3 [RCV000087132] | Chr10:27533759 [GRCh38] Chr10:27822688 [GRCh37] Chr10:10p12.1 |
pathogenic |
GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1 | copy number loss | See cases [RCV000052503] | Chr10:27046685..30228891 [GRCh38] Chr10:27335614..30517820 [GRCh37] Chr10:27375620..30557826 [NCBI36] Chr10:10p12.1-11.23 |
pathogenic |
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] | Chr10:90421..29058318 [GRCh38] Chr10:224406..29347247 [GRCh37] Chr10:126361..29387253 [NCBI36] Chr10:10p15.3-12.1 |
pathogenic |
NM_021252.5(RAB18):c.264T>C (p.Tyr88=) | single nucleotide variant | RAB18-related condition [RCV003905127]|not provided [RCV000951581]|not specified [RCV000118085] | Chr10:27533739 [GRCh38] Chr10:27822668 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) | single nucleotide variant | RAB18-related condition [RCV003975035]|Warburg micro syndrome 3 [RCV000385619]|not provided [RCV000878180]|not specified [RCV000118086] | Chr10:27538022 [GRCh38] Chr10:27826951 [GRCh37] Chr10:10p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 | copy number gain | See cases [RCV000139427] | Chr10:19088161..32732293 [GRCh38] Chr10:19377090..33021221 [GRCh37] Chr10:19417096..33061227 [NCBI36] Chr10:10p12.31-11.22 |
likely pathogenic |
GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1 | copy number loss | See cases [RCV000139515] | Chr10:26823016..30248926 [GRCh38] Chr10:27111945..30537855 [GRCh37] Chr10:27151951..30577861 [NCBI36] Chr10:10p12.1-11.23 |
pathogenic |
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 | copy number gain | See cases [RCV000141497] | Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22 |
benign |
NM_021252.5(RAB18):c.406G>A (p.Gly136Ser) | single nucleotide variant | not specified [RCV000192819] | Chr10:27533955 [GRCh38] Chr10:27822884 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3559C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000302258] | Chr10:27541610 [GRCh38] Chr10:27830539 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.*2744C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000321276] | Chr10:27540795 [GRCh38] Chr10:27829724 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.*1141T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000321677] | Chr10:27539192 [GRCh38] Chr10:27828121 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.4(RAB18):c.-144T>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000344494] | Chr10:27504226 [GRCh38] Chr10:27793155 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*757G>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000368286] | Chr10:27538808 [GRCh38] Chr10:27827737 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.298G>C (p.Asp100His) | single nucleotide variant | Warburg micro syndrome 3 [RCV000370517] | Chr10:27533773 [GRCh38] Chr10:27822702 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2420C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000269821] | Chr10:27540471 [GRCh38] Chr10:27829400 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*956A>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000269855] | Chr10:27539007 [GRCh38] Chr10:27827936 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*992C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000324967] | Chr10:27539043 [GRCh38] Chr10:27827972 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1943G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000348858] | Chr10:27539994 [GRCh38] Chr10:27828923 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1542T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000373540] | Chr10:27539593 [GRCh38] Chr10:27828522 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*150C>T | single nucleotide variant | Warburg micro syndrome [RCV000288146] | Chr10:27538201 [GRCh38] Chr10:27827130 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2449A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000305965] | Chr10:27540500 [GRCh38] Chr10:27829429 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.*3129C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000349564] | Chr10:27541180 [GRCh38] Chr10:27830109 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.*3453G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000289355] | Chr10:27541504 [GRCh38] Chr10:27830433 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*1412C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000376290] | Chr10:27539463 [GRCh38] Chr10:27828392 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.*3939A>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000273879] | Chr10:27541990 [GRCh38] Chr10:27830919 [GRCh37] Chr10:10p12.1 |
benign|uncertain significance |
NM_021252.5(RAB18):c.*758A>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000273807] | Chr10:27538809 [GRCh38] Chr10:27827738 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.4(RAB18):c.-182G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000289691] | Chr10:27504188 [GRCh38] Chr10:27793117 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3293del | deletion | Warburg micro syndrome [RCV000400409] | Chr10:27541344 [GRCh38] Chr10:27830273 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3167G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000291220] | Chr10:27541218 [GRCh38] Chr10:27830147 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2242A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000309602] | Chr10:27540293 [GRCh38] Chr10:27829222 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.*764A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000309858] | Chr10:27538815 [GRCh38] Chr10:27827744 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1089C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000379748] | Chr10:27539140 [GRCh38] Chr10:27828069 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*278A>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000402247]|not provided [RCV001535273] | Chr10:27538329 [GRCh38] Chr10:27827258 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.-20C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000402779]|not specified [RCV000444527] | Chr10:27504350 [GRCh38] Chr10:27793279 [GRCh37] Chr10:10p12.1 |
benign|likely benign|uncertain significance |
NM_021252.5(RAB18):c.*3803_*3804insT | insertion | Warburg micro syndrome [RCV000332486] | Chr10:27541854..27541855 [GRCh38] Chr10:27830783..27830784 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*99C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000382249] | Chr10:27538150 [GRCh38] Chr10:27827079 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2862T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000260500] | Chr10:27540913 [GRCh38] Chr10:27829842 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002522156]|Warburg micro syndrome 3 [RCV000275979]|not provided [RCV003480585] | Chr10:27533943 [GRCh38] Chr10:27822872 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3729G>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000260917] | Chr10:27541780 [GRCh38] Chr10:27830709 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1895G>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000312664] | Chr10:27539946 [GRCh38] Chr10:27828875 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*741A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000313552] | Chr10:27538792 [GRCh38] Chr10:27827721 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*504A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000334793] | Chr10:27538555 [GRCh38] Chr10:27827484 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*3584C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000359254] | Chr10:27541635 [GRCh38] Chr10:27830564 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.-41A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000359622] | Chr10:27504329 [GRCh38] Chr10:27793258 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1845G>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000407887] | Chr10:27539896 [GRCh38] Chr10:27828825 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2030G>T | single nucleotide variant | Warburg micro syndrome [RCV000407897] | Chr10:27540081 [GRCh38] Chr10:27829010 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1502G>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000337529] | Chr10:27539553 [GRCh38] Chr10:27828482 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2476G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000360720] | Chr10:27540527 [GRCh38] Chr10:27829456 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.270C>A (p.Val90=) | single nucleotide variant | RAB18-related condition [RCV003897681]|Warburg micro syndrome 3 [RCV000315830] | Chr10:27533745 [GRCh38] Chr10:27822674 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.*2974C>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000388859] | Chr10:27541025 [GRCh38] Chr10:27829954 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.*402T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000298573] | Chr10:27538453 [GRCh38] Chr10:27827382 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2375A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000364386] | Chr10:27540426 [GRCh38] Chr10:27829355 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.*890G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000364502] | Chr10:27538941 [GRCh38] Chr10:27827870 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1488A>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000282460] | Chr10:27539539 [GRCh38] Chr10:27828468 [GRCh37] Chr10:10p12.1 |
benign|uncertain significance |
NM_021252.5(RAB18):c.*3476A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000341982] | Chr10:27541527 [GRCh38] Chr10:27830456 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.4(RAB18):c.-83C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000391458]|not provided [RCV001548014] | Chr10:27504287 [GRCh38] Chr10:27793216 [GRCh37] Chr10:10p12.1 |
benign|likely benign|uncertain significance |
NM_021252.5(RAB18):c.*3484T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000391506] | Chr10:27541535 [GRCh38] Chr10:27830464 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*387C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000391701] | Chr10:27538438 [GRCh38] Chr10:27827367 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.*557G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000391711] | Chr10:27538608 [GRCh38] Chr10:27827537 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2529G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000266231] | Chr10:27540580 [GRCh38] Chr10:27829509 [GRCh37] Chr10:10p12.1 |
benign|likely benign |
NM_021252.5(RAB18):c.*1136G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000266466] | Chr10:27539187 [GRCh38] Chr10:27828116 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.36C>A (p.Leu12=) | single nucleotide variant | RAB18-related condition [RCV003977864]|Warburg micro syndrome 3 [RCV000300444]|not provided [RCV002059548] | Chr10:27504405 [GRCh38] Chr10:27793334 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.*3696T>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000300859] | Chr10:27541747 [GRCh38] Chr10:27830676 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*254A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000343064] | Chr10:27538305 [GRCh38] Chr10:27827234 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.260-7dup | duplication | RAB18-related condition [RCV003977865]|Warburg micro syndrome 3 [RCV002502192]|Warburg micro syndrome [RCV000260435]|not provided [RCV002059549]|not specified [RCV000611985] | Chr10:27533727..27533728 [GRCh38] Chr10:27822656..27822657 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*1680A>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000278780] | Chr10:27539731 [GRCh38] Chr10:27828660 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*16A>G | single nucleotide variant | Warburg micro syndrome [RCV000291277] | Chr10:27538067 [GRCh38] Chr10:27826996 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2943A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000315613] | Chr10:27540994 [GRCh38] Chr10:27829923 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr) | single nucleotide variant | Warburg micro syndrome 3 [RCV000331024] | Chr10:27537884 [GRCh38] Chr10:27826813 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3193C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000346198] | Chr10:27541244 [GRCh38] Chr10:27830173 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*4039A>C | single nucleotide variant | Warburg micro syndrome 3 [RCV000331263] | Chr10:27542090 [GRCh38] Chr10:27831019 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.4(RAB18):c.-79T>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000304873] | Chr10:27504291 [GRCh38] Chr10:27793220 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3046_*3047dup | duplication | Warburg micro syndrome [RCV000294701] | Chr10:27541093..27541094 [GRCh38] Chr10:27830022..27830023 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3166C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000385543] | Chr10:27541217 [GRCh38] Chr10:27830146 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3599dup | duplication | Warburg micro syndrome [RCV000405033] | Chr10:27541648..27541649 [GRCh38] Chr10:27830577..27830578 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*325C>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000284537] | Chr10:27538376 [GRCh38] Chr10:27827305 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1696T>A | single nucleotide variant | Warburg micro syndrome 3 [RCV000352421] | Chr10:27539747 [GRCh38] Chr10:27828676 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3701GACT[1] | microsatellite | Warburg micro syndrome [RCV000353334] | Chr10:27541751..27541754 [GRCh38] Chr10:27830680..27830683 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3927A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000370548] | Chr10:27541978 [GRCh38] Chr10:27830907 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*382C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000338288] | Chr10:27538433 [GRCh38] Chr10:27827362 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.68+10A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV000355243] | Chr10:27504447 [GRCh38] Chr10:27793376 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2788C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000373873] | Chr10:27540839 [GRCh38] Chr10:27829768 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*62C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV000327616] | Chr10:27538113 [GRCh38] Chr10:27827042 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 | copy number gain | See cases [RCV000447131] | Chr10:100026..30278548 [GRCh37] Chr10:10p15.3-11.23 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_021252.5(RAB18):c.207G>A (p.Arg69=) | single nucleotide variant | not provided [RCV003884582]|not specified [RCV000500774] | Chr10:27532527 [GRCh38] Chr10:27821456 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.259+5G>A | single nucleotide variant | not provided [RCV000493899] | Chr10:27532584 [GRCh38] Chr10:27821513 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 | copy number gain | See cases [RCV000510893] | Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23 |
pathogenic |
GRCh37/hg19 10p12.1(chr10:27587517-27972218)x3 | copy number gain | not provided [RCV000683231] | Chr10:27587517..27972218 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p12.1(chr10:27612768-27873909)x3 | copy number gain | not provided [RCV000683217] | Chr10:27612768..27873909 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p12.1(chr10:26318337-27889818)x3 | copy number gain | not provided [RCV000737055] | Chr10:26318337..27889818 [GRCh37] Chr10:10p12.1 |
likely benign |
GRCh37/hg19 10p12.1(chr10:26344939-27889818)x3 | copy number gain | not provided [RCV000749539] | Chr10:26344939..27889818 [GRCh37] Chr10:10p12.1 |
likely benign |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_021252.5(RAB18):c.186+83G>C | single nucleotide variant | not provided [RCV001546556] | Chr10:27526972 [GRCh38] Chr10:27815901 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.243A>T (p.Ala81=) | single nucleotide variant | not provided [RCV000924046] | Chr10:27532563 [GRCh38] Chr10:27821492 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.445+9G>T | single nucleotide variant | not provided [RCV000924140] | Chr10:27534003 [GRCh38] Chr10:27822932 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.462C>T (p.Thr154=) | single nucleotide variant | not provided [RCV000964767] | Chr10:27537892 [GRCh38] Chr10:27826821 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.125-92A>G | single nucleotide variant | not provided [RCV000827527] | Chr10:27526736 [GRCh38] Chr10:27815665 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.96G>T (p.Thr32=) | single nucleotide variant | not provided [RCV000878670] | Chr10:27509902 [GRCh38] Chr10:27798831 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.4(RAB18):c.-443C>T | single nucleotide variant | not provided [RCV000839560] | Chr10:27503927 [GRCh38] Chr10:27792856 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.187-76G>A | single nucleotide variant | not provided [RCV000836444] | Chr10:27532431 [GRCh38] Chr10:27821360 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.187-41A>G | single nucleotide variant | not provided [RCV000836445] | Chr10:27532466 [GRCh38] Chr10:27821395 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.446-288C>T | single nucleotide variant | not provided [RCV000844216] | Chr10:27537588 [GRCh38] Chr10:27826517 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.186+78C>G | single nucleotide variant | not provided [RCV000833251] | Chr10:27526967 [GRCh38] Chr10:27815896 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.69-130T>A | single nucleotide variant | not provided [RCV000827529] | Chr10:27509745 [GRCh38] Chr10:27798674 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.445+229A>G | single nucleotide variant | not provided [RCV001544799] | Chr10:27534223 [GRCh38] Chr10:27823152 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.*3906G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001106584] | Chr10:27541957 [GRCh38] Chr10:27830886 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3227A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001105437] | Chr10:27541278 [GRCh38] Chr10:27830207 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*946G>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001108595] | Chr10:27538997 [GRCh38] Chr10:27827926 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*4038A>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001108757] | Chr10:27542089 [GRCh38] Chr10:27831018 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln) | single nucleotide variant | Warburg micro syndrome 3 [RCV001103333] | Chr10:27533971 [GRCh38] Chr10:27822900 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.4(RAB18):c.-150G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001106289] | Chr10:27504220 [GRCh38] Chr10:27793149 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*560C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001106386] | Chr10:27538611 [GRCh38] Chr10:27827540 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.148A>G (p.Ile50Val) | single nucleotide variant | Inborn genetic diseases [RCV003161114]|not provided [RCV001572055] | Chr10:27526851 [GRCh38] Chr10:27815780 [GRCh37] Chr10:10p12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_021252.5(RAB18):c.260-171del | deletion | not provided [RCV001613594] | Chr10:27533555 [GRCh38] Chr10:27822484 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.187-171_187-167del | microsatellite | not provided [RCV001639211] | Chr10:27532331..27532335 [GRCh38] Chr10:27821260..27821264 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.186+290T>G | single nucleotide variant | not provided [RCV001586244] | Chr10:27527179 [GRCh38] Chr10:27816108 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.68+264C>T | single nucleotide variant | not provided [RCV001562501] | Chr10:27504701 [GRCh38] Chr10:27793630 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.259+9T>A | single nucleotide variant | not provided [RCV000896344]|not specified [RCV001818716] | Chr10:27532588 [GRCh38] Chr10:27821517 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.501A>G (p.Glu167=) | single nucleotide variant | RAB18-related condition [RCV003968045]|not provided [RCV000885820] | Chr10:27537931 [GRCh38] Chr10:27826860 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.*635G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001106387] | Chr10:27538686 [GRCh38] Chr10:27827615 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2085A>C | single nucleotide variant | Warburg micro syndrome 3 [RCV001106476] | Chr10:27540136 [GRCh38] Chr10:27829065 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1041A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001103419] | Chr10:27539092 [GRCh38] Chr10:27828021 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*407G>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001105252] | Chr10:27538458 [GRCh38] Chr10:27827387 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1779A>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001105348] | Chr10:27539830 [GRCh38] Chr10:27828759 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NC_000010.11:g.27503917T>A | single nucleotide variant | not provided [RCV001548345] | Chr10:27503917 [GRCh38] Chr10:27792846 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.*1110A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001103421] | Chr10:27539161 [GRCh38] Chr10:27828090 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*170T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV001103336] | Chr10:27538221 [GRCh38] Chr10:27827150 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.*3330G>C | single nucleotide variant | Warburg micro syndrome 3 [RCV001105438] | Chr10:27541381 [GRCh38] Chr10:27830310 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3521C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001105439] | Chr10:27541572 [GRCh38] Chr10:27830501 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*906A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001108594] | Chr10:27538957 [GRCh38] Chr10:27827886 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*448G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001106385] | Chr10:27538499 [GRCh38] Chr10:27827428 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*3766C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001106582] | Chr10:27541817 [GRCh38] Chr10:27830746 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3832C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001106583] | Chr10:27541883 [GRCh38] Chr10:27830812 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*150C>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001103335] | Chr10:27538201 [GRCh38] Chr10:27827130 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1047T>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001103420] | Chr10:27539098 [GRCh38] Chr10:27828027 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2327T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV001108671] | Chr10:27540378 [GRCh38] Chr10:27829307 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*4131A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001108758] | Chr10:27542182 [GRCh38] Chr10:27831111 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*4185G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001108759] | Chr10:27542236 [GRCh38] Chr10:27831165 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.549del (p.Gly184fs) | deletion | not provided [RCV001169856] | Chr10:27537977 [GRCh38] Chr10:27826906 [GRCh37] Chr10:10p12.1 |
likely pathogenic |
NM_021252.5(RAB18):c.260-43_260-42del | deletion | Warburg micro syndrome 3 [RCV001796607]|not provided [RCV001611049] | Chr10:27533691..27533692 [GRCh38] Chr10:27822620..27822621 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.69-124G>C | single nucleotide variant | not provided [RCV001589957] | Chr10:27509751 [GRCh38] Chr10:27798680 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.*8G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001103334] | Chr10:27538059 [GRCh38] Chr10:27826988 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1452G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001105346] | Chr10:27539503 [GRCh38] Chr10:27828432 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3222C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001105436] | Chr10:27541273 [GRCh38] Chr10:27830202 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3543G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001105440] | Chr10:27541594 [GRCh38] Chr10:27830523 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1800A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001106474] | Chr10:27539851 [GRCh38] Chr10:27828780 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*1842A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001106475] | Chr10:27539893 [GRCh38] Chr10:27828822 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*2302A>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001106477] | Chr10:27540353 [GRCh38] Chr10:27829282 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.*2985T>G | single nucleotide variant | Warburg micro syndrome 3 [RCV001103514] | Chr10:27541036 [GRCh38] Chr10:27829965 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3 | copy number gain | not provided [RCV001006302] | Chr10:27302866..28355945 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*822T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV001108593] | Chr10:27538873 [GRCh38] Chr10:27827802 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*3967T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV001108755] | Chr10:27542018 [GRCh38] Chr10:27830947 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.*4008C>T | single nucleotide variant | Warburg micro syndrome 3 [RCV001108756] | Chr10:27542059 [GRCh38] Chr10:27830988 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.*419G>A | single nucleotide variant | Warburg micro syndrome 3 [RCV001105253]|not provided [RCV002511040] | Chr10:27538470 [GRCh38] Chr10:27827399 [GRCh37] Chr10:10p12.1 |
likely benign|uncertain significance |
NM_021252.5(RAB18):c.*1589T>C | single nucleotide variant | Warburg micro syndrome 3 [RCV001105347] | Chr10:27539640 [GRCh38] Chr10:27828569 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.121A>G (p.Ile41Val) | single nucleotide variant | not provided [RCV001531053] | Chr10:27509927 [GRCh38] Chr10:27798856 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1 | copy number loss | not provided [RCV001259541] | Chr10:27265783..28643506 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.259+242G>A | single nucleotide variant | not provided [RCV001725786] | Chr10:27532821 [GRCh38] Chr10:27821750 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.378+34T>A | single nucleotide variant | not provided [RCV001618974] | Chr10:27533887 [GRCh38] Chr10:27822816 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.186+57G>A | single nucleotide variant | not provided [RCV001618983] | Chr10:27526946 [GRCh38] Chr10:27815875 [GRCh37] Chr10:10p12.1 |
benign |
NC_000010.11:g.27504003C>T | single nucleotide variant | not provided [RCV001610024] | Chr10:27504003 [GRCh38] Chr10:27792932 [GRCh37] Chr10:10p12.1 |
benign |
NM_021252.5(RAB18):c.95C>T (p.Thr32Met) | single nucleotide variant | Inborn genetic diseases [RCV004040159]|not provided [RCV001760962] | Chr10:27509901 [GRCh38] Chr10:27798830 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.452G>A (p.Ser151Asn) | single nucleotide variant | not provided [RCV003329414]|not specified [RCV001819341] | Chr10:27537882 [GRCh38] Chr10:27826811 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.183A>G (p.Ile61Met) | single nucleotide variant | not provided [RCV001947815] | Chr10:27526886 [GRCh38] Chr10:27815815 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 | copy number gain | Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] | Chr10:135655..47688677 [GRCh37] Chr10:10p15.3-q11.22 |
not provided |
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) | copy number gain | not specified [RCV002052863] | Chr10:6273934..34732521 [GRCh37] Chr10:10p15.1-11.21 |
pathogenic |
GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1 | copy number loss | not provided [RCV001827877] | Chr10:27204530..29105882 [GRCh37] Chr10:10p12.1 |
pathogenic |
NM_021252.5(RAB18):c.124+6C>T | single nucleotide variant | not provided [RCV001887823] | Chr10:27509936 [GRCh38] Chr10:27798865 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.260-15C>T | single nucleotide variant | not provided [RCV002109427] | Chr10:27533720 [GRCh38] Chr10:27822649 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.396T>C (p.Asp132=) | single nucleotide variant | not provided [RCV002073482] | Chr10:27533945 [GRCh38] Chr10:27822874 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.70C>T (p.Leu24=) | single nucleotide variant | not provided [RCV002131499] | Chr10:27509876 [GRCh38] Chr10:27798805 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.93T>A (p.Asp31Glu) | single nucleotide variant | not provided [RCV002071458] | Chr10:27509899 [GRCh38] Chr10:27798828 [GRCh37] Chr10:10p12.1 |
likely benign |
NC_000010.10:g.(?_26993586)_(28391597_?)dup | duplication | not provided [RCV003123119] | Chr10:26993586..28391597 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.85A>C (p.Thr29Pro) | single nucleotide variant | not provided [RCV002273603] | Chr10:27509891 [GRCh38] Chr10:27798820 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.477A>G (p.Gln159=) | single nucleotide variant | not provided [RCV002995571] | Chr10:27537907 [GRCh38] Chr10:27826836 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.7G>C (p.Glu3Gln) | single nucleotide variant | Inborn genetic diseases [RCV002864182] | Chr10:27504376 [GRCh38] Chr10:27793305 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.260-11T>C | single nucleotide variant | not provided [RCV002885953] | Chr10:27533724 [GRCh38] Chr10:27822653 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.232T>C (p.Tyr78His) | single nucleotide variant | Inborn genetic diseases [RCV002910278] | Chr10:27532552 [GRCh38] Chr10:27821481 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.532A>T (p.Ser178Cys) | single nucleotide variant | not provided [RCV002919032] | Chr10:27537962 [GRCh38] Chr10:27826891 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.105A>G (p.Pro35=) | single nucleotide variant | not provided [RCV003061109] | Chr10:27509911 [GRCh38] Chr10:27798840 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.358G>A (p.Val120Ile) | single nucleotide variant | Inborn genetic diseases [RCV003192383] | Chr10:27533833 [GRCh38] Chr10:27822762 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.103C>T (p.Pro35Ser) | single nucleotide variant | Warburg micro syndrome 3 [RCV003135196] | Chr10:27509909 [GRCh38] Chr10:27798838 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_021252.5(RAB18):c.199C>G (p.Gln67Glu) | single nucleotide variant | Warburg micro syndrome 3 [RCV003486218] | Chr10:27532519 [GRCh38] Chr10:27821448 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.230A>G (p.Tyr77Cys) | single nucleotide variant | not provided [RCV003696802] | Chr10:27532550 [GRCh38] Chr10:27821479 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.446-12C>G | single nucleotide variant | not provided [RCV003561651] | Chr10:27537864 [GRCh38] Chr10:27826793 [GRCh37] Chr10:10p12.1 |
likely benign |
GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1 | copy number loss | not specified [RCV003986880] | Chr10:25646101..30715668 [GRCh37] Chr10:10p12.1-11.23 |
pathogenic |
NM_021252.5(RAB18):c.393C>T (p.Val131=) | single nucleotide variant | RAB18-related condition [RCV003892250] | Chr10:27533942 [GRCh38] Chr10:27822871 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.276_277del (p.Asp94fs) | deletion | not provided [RCV003707275] | Chr10:27533751..27533752 [GRCh38] Chr10:27822680..27822681 [GRCh37] Chr10:10p12.1 |
pathogenic |
NM_021252.5(RAB18):c.117A>C (p.Ala39=) | single nucleotide variant | not provided [RCV003884094] | Chr10:27509923 [GRCh38] Chr10:27798852 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.299A>C (p.Asp100Ala) | single nucleotide variant | Inborn genetic diseases [RCV004443024] | Chr10:27533774 [GRCh38] Chr10:27822703 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.335G>A (p.Arg112Lys) | single nucleotide variant | Inborn genetic diseases [RCV004443025] | Chr10:27533810 [GRCh38] Chr10:27822739 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.338A>G (p.Asn113Ser) | single nucleotide variant | not provided [RCV003887471] | Chr10:27533813 [GRCh38] Chr10:27822742 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.174A>G (p.Lys58=) | single nucleotide variant | RAB18-related condition [RCV003929526] | Chr10:27526877 [GRCh38] Chr10:27815806 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_021252.5(RAB18):c.379-2A>G | single nucleotide variant | RAB18-related condition [RCV003901544] | Chr10:27533926 [GRCh38] Chr10:27822855 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_021252.5(RAB18):c.150T>A (p.Ile50=) | single nucleotide variant | not provided [RCV003887410] | Chr10:27526853 [GRCh38] Chr10:27815782 [GRCh37] Chr10:10p12.1 |
likely benign |
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. |
SHGC-36745 |
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RH47179 |
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STS-W45315 |
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RH92596 |
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STS-N52153 |
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SHGC-32671 |
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STS-H21670 |
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RH46011 |
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RAB18_3279 |
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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 | 2405 | 2350 | 1667 | 569 | 1520 | 411 | 4304 | 1984 | 3539 | 382 | 1452 | 1609 | 174 | 1 | 1201 | 2738 | 6 | 2 |
Low | 34 | 641 | 59 | 55 | 431 | 54 | 53 | 213 | 195 | 37 | 8 | 4 | 1 | 3 | 50 | |||
Below cutoff |
RefSeq Transcripts | NG_032035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001256410 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001256411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001256412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_021252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_046172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF087860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF136974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF137372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF498950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF532968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ277145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ277146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ277147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ277148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK223153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL138920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY574034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC029350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP210053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT009840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN357871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR533455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF459537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
N56901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000356940 ⟹ ENSP00000349415 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000375802 ⟹ ENSP00000364960 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000423465 ⟹ ENSP00000407872 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000465772 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000484281 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000490236 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000535776 ⟹ ENSP00000439321 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000611151 ⟹ ENSP00000483927 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000621805 ⟹ ENSP00000478479 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682082 ⟹ ENSP00000507542 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682138 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000682173 ⟹ ENSP00000508395 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682181 ⟹ ENSP00000507392 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682347 ⟹ ENSP00000508355 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000682368 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682389 ⟹ ENSP00000507154 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000682518 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682668 ⟹ ENSP00000508082 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682681 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000682777 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682821 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682852 ⟹ ENSP00000508341 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000682963 ⟹ ENSP00000507532 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683030 ⟹ ENSP00000507273 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683042 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000683088 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683385 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683419 ⟹ ENSP00000508094 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683446 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683538 ⟹ ENSP00000507467 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683574 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000683610 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683755 ⟹ ENSP00000506993 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683797 ⟹ ENSP00000508179 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683816 ⟹ ENSP00000507834 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683844 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683866 ⟹ ENSP00000507968 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683915 ⟹ ENSP00000507934 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000683924 ⟹ ENSP00000507963 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684134 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684191 ⟹ ENSP00000508185 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684393 ⟹ ENSP00000507136 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684457 ⟹ ENSP00000508247 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684501 ⟹ ENSP00000507589 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684744 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001256410 ⟹ NP_001243339 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001256411 ⟹ NP_001243340 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001256412 ⟹ NP_001243341 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_021252 ⟹ NP_067075 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
RefSeq Acc Id: | NR_046172 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001243339 | (Get FASTA) | NCBI Sequence Viewer |
NP_001243340 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001243341 | (Get FASTA) | NCBI Sequence Viewer | |
NP_067075 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF61433 | (Get FASTA) | NCBI Sequence Viewer |
AAG49435 | (Get FASTA) | NCBI Sequence Viewer | |
AAH15014 | (Get FASTA) | NCBI Sequence Viewer | |
AAH29350 | (Get FASTA) | NCBI Sequence Viewer | |
AAM21098 | (Get FASTA) | NCBI Sequence Viewer | |
AAP85637 | (Get FASTA) | NCBI Sequence Viewer | |
AAP88842 | (Get FASTA) | NCBI Sequence Viewer | |
AAP97170 | (Get FASTA) | NCBI Sequence Viewer | |
AAU08232 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92935 | (Get FASTA) | NCBI Sequence Viewer | |
BAD96873 | (Get FASTA) | NCBI Sequence Viewer | |
BAG50939 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12069 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12635 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13039 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66668 | (Get FASTA) | NCBI Sequence Viewer | |
CAB86486 | (Get FASTA) | NCBI Sequence Viewer | |
CAG38486 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86054 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86055 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000349415 | ||
ENSP00000349415.7 | |||
ENSP00000364960.3 | |||
ENSP00000407872.2 | |||
ENSP00000439321.2 | |||
ENSP00000478479 | |||
ENSP00000478479.1 | |||
ENSP00000483927.2 | |||
ENSP00000506993.1 | |||
ENSP00000507136.1 | |||
ENSP00000507154 | |||
ENSP00000507154.1 | |||
ENSP00000507273.1 | |||
ENSP00000507392.1 | |||
ENSP00000507467.1 | |||
ENSP00000507532.1 | |||
ENSP00000507542.1 | |||
ENSP00000507589 | |||
ENSP00000507589.1 | |||
ENSP00000507834.1 | |||
ENSP00000507934.1 | |||
ENSP00000507963.1 | |||
ENSP00000507968.1 | |||
ENSP00000508082.1 | |||
ENSP00000508094.1 | |||
ENSP00000508179.1 | |||
ENSP00000508185.1 | |||
ENSP00000508247.1 | |||
ENSP00000508341.1 | |||
ENSP00000508355.1 | |||
ENSP00000508395.1 | |||
GenBank Protein | Q9NP72 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_067075 ⟸ NM_021252 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q56UN9 (UniProtKB/Swiss-Prot), Q53FX8 (UniProtKB/Swiss-Prot), D3DRW1 (UniProtKB/Swiss-Prot), B7Z333 (UniProtKB/Swiss-Prot), B3KMC7 (UniProtKB/Swiss-Prot), Q6FIH1 (UniProtKB/Swiss-Prot), Q9NP72 (UniProtKB/Swiss-Prot), B7Z5V3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001243339 ⟸ NM_001256410 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9NP72 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001243340 ⟸ NM_001256411 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B7Z4P9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001243341 ⟸ NM_001256412 |
- Peptide Label: | isoform 5 |
- UniProtKB: | Q9NP72 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000407872 ⟸ ENST00000423465 |
RefSeq Acc Id: | ENSP00000478479 ⟸ ENST00000621805 |
RefSeq Acc Id: | ENSP00000364960 ⟸ ENST00000375802 |
RefSeq Acc Id: | ENSP00000483927 ⟸ ENST00000611151 |
RefSeq Acc Id: | ENSP00000439321 ⟸ ENST00000535776 |
RefSeq Acc Id: | ENSP00000349415 ⟸ ENST00000356940 |
RefSeq Acc Id: | ENSP00000507136 ⟸ ENST00000684393 |
RefSeq Acc Id: | ENSP00000507154 ⟸ ENST00000682389 |
RefSeq Acc Id: | ENSP00000507589 ⟸ ENST00000684501 |
RefSeq Acc Id: | ENSP00000506993 ⟸ ENST00000683755 |
RefSeq Acc Id: | ENSP00000507968 ⟸ ENST00000683866 |
RefSeq Acc Id: | ENSP00000508247 ⟸ ENST00000684457 |
RefSeq Acc Id: | ENSP00000507963 ⟸ ENST00000683924 |
RefSeq Acc Id: | ENSP00000508355 ⟸ ENST00000682347 |
RefSeq Acc Id: | ENSP00000508395 ⟸ ENST00000682173 |
RefSeq Acc Id: | ENSP00000508179 ⟸ ENST00000683797 |
RefSeq Acc Id: | ENSP00000507392 ⟸ ENST00000682181 |
RefSeq Acc Id: | ENSP00000507532 ⟸ ENST00000682963 |
RefSeq Acc Id: | ENSP00000508082 ⟸ ENST00000682668 |
RefSeq Acc Id: | ENSP00000508341 ⟸ ENST00000682852 |
RefSeq Acc Id: | ENSP00000507834 ⟸ ENST00000683816 |
RefSeq Acc Id: | ENSP00000508094 ⟸ ENST00000683419 |
RefSeq Acc Id: | ENSP00000507934 ⟸ ENST00000683915 |
RefSeq Acc Id: | ENSP00000508185 ⟸ ENST00000684191 |
RefSeq Acc Id: | ENSP00000507467 ⟸ ENST00000683538 |
RefSeq Acc Id: | ENSP00000507542 ⟸ ENST00000682082 |
RefSeq Acc Id: | ENSP00000507273 ⟸ ENST00000683030 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9NP72-F1-model_v2 | AlphaFold | Q9NP72 | 1-206 | view protein structure |
RGD ID: | 7217257 | ||||||||
Promoter ID: | EPDNEW_H14374 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB18_1 | ||||||||
Description: | RAB18, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6788039 | ||||||||
Promoter ID: | HG_KWN:8958 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000375802, ENST00000396255, OTTHUMT00000047326, OTTHUMT00000047327, OTTHUMT00000047329, OTTHUMT00000047330, OTTHUMT00000047331, UC001ITW.1 | ||||||||
Position: |
|
RGD ID: | 6850742 | ||||||||
Promoter ID: | EP73165 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_RAB18 | ||||||||
Description: | RAB18, member RAS oncogene family. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:14244 | AgrOrtholog |
COSMIC | RAB18 | COSMIC |
Ensembl Genes | ENSG00000099246 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000356940 | ENTREZGENE |
ENST00000356940.11 | UniProtKB/Swiss-Prot | |
ENST00000375802.7 | UniProtKB/TrEMBL | |
ENST00000423465.2 | UniProtKB/TrEMBL | |
ENST00000535776.6 | UniProtKB/TrEMBL | |
ENST00000611151 | ENTREZGENE | |
ENST00000611151.5 | UniProtKB/TrEMBL | |
ENST00000621805 | ENTREZGENE | |
ENST00000621805.5 | UniProtKB/Swiss-Prot | |
ENST00000682082.1 | UniProtKB/Swiss-Prot | |
ENST00000682173.1 | UniProtKB/TrEMBL | |
ENST00000682181.1 | UniProtKB/TrEMBL | |
ENST00000682347.1 | UniProtKB/TrEMBL | |
ENST00000682389 | ENTREZGENE | |
ENST00000682389.1 | UniProtKB/Swiss-Prot | |
ENST00000682668.1 | UniProtKB/TrEMBL | |
ENST00000682852.1 | UniProtKB/TrEMBL | |
ENST00000682963.1 | UniProtKB/TrEMBL | |
ENST00000683030.1 | UniProtKB/TrEMBL | |
ENST00000683419.1 | UniProtKB/TrEMBL | |
ENST00000683538.1 | UniProtKB/TrEMBL | |
ENST00000683755.1 | UniProtKB/TrEMBL | |
ENST00000683797.1 | UniProtKB/TrEMBL | |
ENST00000683816.1 | UniProtKB/TrEMBL | |
ENST00000683866.1 | UniProtKB/TrEMBL | |
ENST00000683915.1 | UniProtKB/TrEMBL | |
ENST00000683924.1 | UniProtKB/TrEMBL | |
ENST00000684191.1 | UniProtKB/TrEMBL | |
ENST00000684393.1 | UniProtKB/TrEMBL | |
ENST00000684457.1 | UniProtKB/TrEMBL | |
ENST00000684501 | ENTREZGENE | |
ENST00000684501.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000099246 | GTEx |
HGNC ID | HGNC:14244 | ENTREZGENE |
Human Proteome Map | RAB18 | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Sigma_54_int_dom_ATP-bd_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:22931 | UniProtKB/Swiss-Prot |
NCBI Gene | 22931 | ENTREZGENE |
OMIM | 602207 | OMIM |
PANTHER | DRAB11-RELATED | UniProtKB/TrEMBL |
INTRAFLAGELLAR TRANSPORT PROTEIN 27 HOMOLOG | UniProtKB/TrEMBL | |
PTHR47978 | UniProtKB/TrEMBL | |
RAS-RELATED PROTEIN RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS-RELATED PROTEIN RAB-2A | UniProtKB/TrEMBL | |
RAS-RELATED PROTEIN RAB-32D | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Ras | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Roc | UniProtKB/TrEMBL | |
PharmGKB | PA34106 | PharmGKB |
PRINTS | RASTRNSFRMNG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAS | UniProtKB/TrEMBL | |
SIGMA54_INTERACT_1 | UniProtKB/TrEMBL | |
SMART | ARF | UniProtKB/Swiss-Prot |
RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RHO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A087X163_HUMAN | UniProtKB/TrEMBL |
A0A804HIB9_HUMAN | UniProtKB/TrEMBL | |
A0A804HIM2_HUMAN | UniProtKB/TrEMBL | |
A0A804HIY1_HUMAN | UniProtKB/TrEMBL | |
A0A804HJ83_HUMAN | UniProtKB/TrEMBL | |
A0A804HJJ8_HUMAN | UniProtKB/TrEMBL | |
A0A804HK95_HUMAN | UniProtKB/TrEMBL | |
A0A804HKH8_HUMAN | UniProtKB/TrEMBL | |
A0A804HKK5_HUMAN | UniProtKB/TrEMBL | |
A0A804HKK8_HUMAN | UniProtKB/TrEMBL | |
A0A804HKV1_HUMAN | UniProtKB/TrEMBL | |
A0A804HL33_HUMAN | UniProtKB/TrEMBL | |
A0A804HL37_HUMAN | UniProtKB/TrEMBL | |
A0A804HL88_HUMAN | UniProtKB/TrEMBL | |
A0A804HLG5_HUMAN | UniProtKB/TrEMBL | |
A0A804HLH7_HUMAN | UniProtKB/TrEMBL | |
A0A804HLK4_HUMAN | UniProtKB/TrEMBL | |
A0A8C8NLQ3_HUMAN | UniProtKB/TrEMBL | |
B3KMC7 | ENTREZGENE | |
B7Z333 | ENTREZGENE | |
B7Z4P9 | ENTREZGENE, UniProtKB/TrEMBL | |
B7Z5V3 | ENTREZGENE, UniProtKB/TrEMBL | |
D3DRW1 | ENTREZGENE | |
H0Y6T8_HUMAN | UniProtKB/TrEMBL | |
Q53FX8 | ENTREZGENE | |
Q56UN9 | ENTREZGENE | |
Q5W0J0_HUMAN | UniProtKB/TrEMBL | |
Q6FIH1 | ENTREZGENE | |
Q9NP72 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B3KMC7 | UniProtKB/Swiss-Prot |
B7Z333 | UniProtKB/Swiss-Prot | |
D3DRW1 | UniProtKB/Swiss-Prot | |
Q53FX8 | UniProtKB/Swiss-Prot | |
Q56UN9 | UniProtKB/Swiss-Prot | |
Q6FIH1 | UniProtKB/Swiss-Prot |