Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Smith-McCort dysplasia 2 | | ISS | Rab33b (Mus musculus) | 13592920 | OMIM:615222 | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Smith-McCort dysplasia 2 | | ISS | Rab33b (Mus musculus) | 13592920 | OMIM:615222 | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Overview of macroautophagy regulation in mammalian cells. | Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15. |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:9512502 | PMID:11230166 | PMID:11256614 | PMID:11718716 | PMID:12477932 | PMID:15489334 | PMID:15761153 | PMID:15815621 | PMID:16923123 | PMID:18448665 | PMID:20163571 | PMID:21808068 |
PMID:21873635 | PMID:22082872 | PMID:22652534 | PMID:22899725 | PMID:23042644 | PMID:23091056 | PMID:23376485 | PMID:25439980 | PMID:26186194 | PMID:26975471 | PMID:27025967 | PMID:27374232 |
PMID:28127940 | PMID:28514442 | PMID:28635671 | PMID:28656962 | PMID:29845934 | PMID:30021884 | PMID:30619736 | PMID:31408960 | PMID:32176739 | PMID:32296183 | PMID:32960676 | PMID:33961781 |
PMID:34000439 | PMID:34284742 | PMID:35013556 | PMID:35256949 | PMID:36610398 |
RAB33B (Homo sapiens - human) |
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Rab33b (Mus musculus - house mouse) |
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Rab33b (Rattus norvegicus - Norway rat) |
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Rab33b (Chinchilla lanigera - long-tailed chinchilla) |
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RAB33B (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB33B (Canis lupus familiaris - dog) |
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Rab33b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB33B (Sus scrofa - pig) |
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RAB33B (Chlorocebus sabaeus - green monkey) |
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Rab33b (Heterocephalus glaber - naked mole-rat) |
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Variants in RAB33B
124 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000043483] | Chr4:139454331 [GRCh38] Chr4:140375485 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000043484] | Chr4:139472880 [GRCh38] Chr4:140394034 [GRCh37] Chr4:4q31.1 |
pathogenic |
GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1 | copy number loss | See cases [RCV000051056] | Chr4:128119872..142431375 [GRCh38] Chr4:129041027..143352528 [GRCh37] Chr4:129260477..143571978 [NCBI36] Chr4:4q28.2-31.21 |
pathogenic |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 | copy number gain | See cases [RCV000051785] | Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 | copy number gain | See cases [RCV000051786] | Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] | Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3 |
pathogenic |
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 | copy number loss | See cases [RCV000053321] | Chr4:116630862..145429900 [GRCh38] Chr4:117552018..146351052 [GRCh37] Chr4:117771466..146570502 [NCBI36] Chr4:4q26-31.21 |
pathogenic |
GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1 | copy number loss | See cases [RCV000054074] | Chr4:138370686..139672312 [GRCh38] Chr4:139291840..140593466 [GRCh37] Chr4:139511290..140812916 [NCBI36] Chr4:4q28.3-31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000488435] | Chr4:139472801 [GRCh38] Chr4:140393955 [GRCh37] Chr4:4q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000488447] | Chr4:139454406 [GRCh38] Chr4:140375560 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000488449] | Chr4:139472926 [GRCh38] Chr4:140394080 [GRCh37] Chr4:4q31.1 |
pathogenic |
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 | copy number gain | See cases [RCV000136810] | Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 | copy number gain | See cases [RCV000137721] | Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 | copy number gain | See cases [RCV000138578] | Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1 |
pathogenic|likely benign |
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 | copy number gain | See cases [RCV000143559] | Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic |
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 | copy number gain | See cases [RCV000240245] | Chr4:136912336..184253252 [GRCh37] Chr4:4q28.3-35.1 |
pathogenic |
NM_031296.2(RAB33B):c.-160G>A | single nucleotide variant | Smith-McCort dysplasia [RCV000261851] | Chr4:139454036 [GRCh38] Chr4:140375190 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.249+10T>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000263939] | Chr4:139454454 [GRCh38] Chr4:140375608 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.-36C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000267906] | Chr4:139454160 [GRCh38] Chr4:140375314 [GRCh37] Chr4:4q31.1 |
benign|likely benign |
NM_031296.3(RAB33B):c.*2026G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000279347] | Chr4:139475152 [GRCh38] Chr4:140396306 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.*701G>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000265826] | Chr4:139473827 [GRCh38] Chr4:140394981 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*796_*797del | deletion | Smith-McCort dysplasia [RCV000271917] | Chr4:139473903..139473904 [GRCh38] Chr4:140395057..140395058 [GRCh37] Chr4:4q31.1 |
uncertain significance |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 | copy number gain | See cases [RCV000240392] | Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
NM_031296.3(RAB33B):c.*1403C>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000332942] | Chr4:139474529 [GRCh38] Chr4:140395683 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.*254A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000396749]|not provided [RCV001718742] | Chr4:139473380 [GRCh38] Chr4:140394534 [GRCh37] Chr4:4q31.1 |
benign|likely benign |
NM_031296.2(RAB33B):c.-205G>C | single nucleotide variant | Smith-McCort dysplasia [RCV000315111]|not provided [RCV001672637] | Chr4:139453991 [GRCh38] Chr4:140375145 [GRCh37] Chr4:4q31.1 |
benign |
NM_031296.3(RAB33B):c.*2132T>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000334442] | Chr4:139475258 [GRCh38] Chr4:140396412 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.-48C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000353419] | Chr4:139454148 [GRCh38] Chr4:140375302 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000377262]|not provided [RCV002057915] | Chr4:139454330 [GRCh38] Chr4:140375484 [GRCh37] Chr4:4q31.1 |
likely benign|uncertain significance |
NM_031296.2(RAB33B):c.-167A>C | single nucleotide variant | Smith-McCort dysplasia [RCV000399338] | Chr4:139454029 [GRCh38] Chr4:140375183 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.-54C>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000317326]|not provided [RCV001636969] | Chr4:139454142 [GRCh38] Chr4:140375296 [GRCh37] Chr4:4q31.1 |
benign |
NM_031296.3(RAB33B):c.*543C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000336219] | Chr4:139473669 [GRCh38] Chr4:140394823 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.*590T>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000400758] | Chr4:139473716 [GRCh38] Chr4:140394870 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.*1303C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000381809] | Chr4:139474429 [GRCh38] Chr4:140395583 [GRCh37] Chr4:4q31.1 |
benign |
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000383050]|not provided [RCV001861226] | Chr4:139472853 [GRCh38] Chr4:140394007 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000288744]|not provided [RCV001850842] | Chr4:139472868 [GRCh38] Chr4:140394022 [GRCh37] Chr4:4q31.1 |
likely benign|uncertain significance |
NM_031296.3(RAB33B):c.*595G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000305646] | Chr4:139473721 [GRCh38] Chr4:140394875 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.*2651C>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000340957] | Chr4:139475777 [GRCh38] Chr4:140396931 [GRCh37] Chr4:4q31.1 |
benign |
NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) | single nucleotide variant | Inborn genetic diseases [RCV002520202]|Smith-McCort dysplasia 2 [RCV000323050]|not provided [RCV002520203] | Chr4:139454323 [GRCh38] Chr4:140375477 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1819A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000292181] | Chr4:139474945 [GRCh38] Chr4:140396099 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000343754] | Chr4:139472989 [GRCh38] Chr4:140394143 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1751G>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000387519] | Chr4:139474877 [GRCh38] Chr4:140396031 [GRCh37] Chr4:4q31.1 |
likely benign|uncertain significance |
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000389054]|not provided [RCV002061241] | Chr4:139473113 [GRCh38] Chr4:140394267 [GRCh37] Chr4:4q31.1 |
likely benign|uncertain significance |
NM_031296.3(RAB33B):c.*1077G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000326944] | Chr4:139474203 [GRCh38] Chr4:140395357 [GRCh37] Chr4:4q31.1 |
benign|likely benign |
NM_031296.3(RAB33B):c.*776C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000366691] | Chr4:139473902 [GRCh38] Chr4:140395056 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.2(RAB33B):c.-164G>A | single nucleotide variant | Smith-McCort dysplasia [RCV000311411] | Chr4:139454032 [GRCh38] Chr4:140375186 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.336C>T (p.Phe112=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000328510]|not provided [RCV002057916] | Chr4:139472772 [GRCh38] Chr4:140393926 [GRCh37] Chr4:4q31.1 |
likely benign|uncertain significance |
NM_031296.2(RAB33B):c.-363G>A | single nucleotide variant | Smith-McCort dysplasia [RCV000394880] | Chr4:139453833 [GRCh38] Chr4:140374987 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*2327G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000395848] | Chr4:139475453 [GRCh38] Chr4:140396607 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1310G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000278022] | Chr4:139474436 [GRCh38] Chr4:140395590 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.48_55del (p.Gly17fs) | deletion | Smith-McCort dysplasia 2 [RCV000488443] | Chr4:139454240..139454247 [GRCh38] Chr4:140375394..140375401 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.*764G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000302596] | Chr4:139473890 [GRCh38] Chr4:140395044 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.2(RAB33B):c.-342T>C | single nucleotide variant | Smith-McCort dysplasia [RCV000345423] | Chr4:139453854 [GRCh38] Chr4:140375008 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*2599A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000304838] | Chr4:139475725 [GRCh38] Chr4:140396879 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*219A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000349107] | Chr4:139473345 [GRCh38] Chr4:140394499 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*118T>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000294799] | Chr4:139473244 [GRCh38] Chr4:140394398 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.2(RAB33B):c.-193G>T | single nucleotide variant | Smith-McCort dysplasia [RCV000369743] | Chr4:139454003 [GRCh38] Chr4:140375157 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1976A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000337773] | Chr4:139475102 [GRCh38] Chr4:140396256 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.2(RAB33B):c.-368C>T | single nucleotide variant | Smith-McCort dysplasia [RCV000339748] | Chr4:139453828 [GRCh38] Chr4:140374982 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1994T>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000373875] | Chr4:139475120 [GRCh38] Chr4:140396274 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*494A>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000299949] | Chr4:139473620 [GRCh38] Chr4:140394774 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.2(RAB33B):c.-163C>T | single nucleotide variant | Smith-McCort dysplasia [RCV000356865] | Chr4:139454033 [GRCh38] Chr4:140375187 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.2(RAB33B):c.-255C>T | single nucleotide variant | Smith-McCort dysplasia [RCV000396529] | Chr4:139453941 [GRCh38] Chr4:140375095 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.2(RAB33B):c.-348G>C | single nucleotide variant | Smith-McCort dysplasia [RCV000290565] | Chr4:139453848 [GRCh38] Chr4:140375002 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*632A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV000360534] | Chr4:139473758 [GRCh38] Chr4:140394912 [GRCh37] Chr4:4q31.1 |
uncertain significance |
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-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 | copy number gain | See cases [RCV000511945] | Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 | copy number gain | See cases [RCV000510970] | Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
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 |
Single allele | deletion | not provided [RCV000678021] | Chr4:126549693..141313049 [GRCh37] Chr4:4q28.1-31.1 |
pathogenic |
NM_031296.3(RAB33B):c.186del (p.Glu63fs) | deletion | Smith-McCort dysplasia 2 [RCV000735865] | Chr4:139454380 [GRCh38] Chr4:140375534 [GRCh37] Chr4:4q31.1 |
pathogenic|likely pathogenic |
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-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 |
NM_031296.3(RAB33B):c.600G>A (p.Lys200=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001148163] | Chr4:139473036 [GRCh38] Chr4:140394190 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1455A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001148275] | Chr4:139474581 [GRCh38] Chr4:140395735 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.258A>G (p.Leu86=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001148161]|not provided [RCV000923881] | Chr4:139472694 [GRCh38] Chr4:140393848 [GRCh37] Chr4:4q31.1 |
benign |
GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1 | copy number loss | not provided [RCV001005599] | Chr4:137901978..141527647 [GRCh37] Chr4:4q28.3-31.21 |
pathogenic |
NM_031296.3(RAB33B):c.*146T>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149724] | Chr4:139473272 [GRCh38] Chr4:140394426 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1949A>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149835] | Chr4:139475075 [GRCh38] Chr4:140396229 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*2722T>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001147357] | Chr4:139475848 [GRCh38] Chr4:140397002 [GRCh37] Chr4:4q31.1 |
likely benign |
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 | copy number gain | not provided [RCV000849686] | Chr4:124873497..185278662 [GRCh37] Chr4:4q28.1-35.1 |
pathogenic |
NM_031296.3(RAB33B):c.*1235G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001148273] | Chr4:139474361 [GRCh38] Chr4:140395515 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1322C>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001148274] | Chr4:139474448 [GRCh38] Chr4:140395602 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*161C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149725] | Chr4:139473287 [GRCh38] Chr4:140394441 [GRCh37] Chr4:4q31.1 |
uncertain significance |
GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1 | copy number loss | not provided [RCV000847693] | Chr4:134054911..142601496 [GRCh37] Chr4:4q28.3-31.21 |
uncertain significance |
GRCh37/hg19 4q31.1(chr4:140333549-140417276)x3 | copy number gain | not provided [RCV000845888] | Chr4:140333549..140417276 [GRCh37] Chr4:4q31.1 |
uncertain significance |
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1 | copy number loss | not provided [RCV001005600] | Chr4:139531815..146095109 [GRCh37] Chr4:4q31.1-31.21 |
pathogenic |
NM_031296.3(RAB33B):c.*2359T>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145500] | Chr4:139475485 [GRCh38] Chr4:140396639 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*2548T>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145503] | Chr4:139475674 [GRCh38] Chr4:140396828 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.502G>A (p.Asp168Asn) | single nucleotide variant | not provided [RCV000998298] | Chr4:139472938 [GRCh38] Chr4:140394092 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.613T>C (p.Leu205=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149721] | Chr4:139473049 [GRCh38] Chr4:140394203 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*780T>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001147272] | Chr4:139473906 [GRCh38] Chr4:140395060 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*2130G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149836] | Chr4:139475256 [GRCh38] Chr4:140396410 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.96C>G (p.Arg32=) | single nucleotide variant | not provided [RCV000929646] | Chr4:139454291 [GRCh38] Chr4:140375445 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.*2355T>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145499] | Chr4:139475481 [GRCh38] Chr4:140396635 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*924G>A | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001147273] | Chr4:139474050 [GRCh38] Chr4:140395204 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001148162]|not provided [RCV001573007] | Chr4:139472966 [GRCh38] Chr4:140394120 [GRCh37] Chr4:4q31.1 |
likely benign|uncertain significance |
GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3 | copy number gain | not provided [RCV001005601] | Chr4:140024115..140457430 [GRCh37] Chr4:4q31.1 |
likely benign |
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 | copy number gain | not provided [RCV001537926] | Chr4:131303317..168722402 [GRCh37] Chr4:4q28.3-32.3 |
pathogenic |
NM_031296.3(RAB33B):c.*2271A>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149837] | Chr4:139475397 [GRCh38] Chr4:140396551 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*576T>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145407] | Chr4:139473702 [GRCh38] Chr4:140394856 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.*2522A>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145502] | Chr4:139475648 [GRCh38] Chr4:140396802 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149723] | Chr4:139473127 [GRCh38] Chr4:140394281 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*1925A>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149834] | Chr4:139475051 [GRCh38] Chr4:140396205 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*425T>C | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145405] | Chr4:139473551 [GRCh38] Chr4:140394705 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*513C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145406] | Chr4:139473639 [GRCh38] Chr4:140394793 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.201G>A (p.Gly67=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001147191] | Chr4:139454396 [GRCh38] Chr4:140375550 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*2391C>T | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001145501] | Chr4:139475517 [GRCh38] Chr4:140396671 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.678G>A (p.Thr226=) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001149722]|not provided [RCV002070815] | Chr4:139473114 [GRCh38] Chr4:140394268 [GRCh37] Chr4:4q31.1 |
likely benign|uncertain significance |
NM_031296.3(RAB33B):c.*1157T>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001147274] | Chr4:139474283 [GRCh38] Chr4:140395437 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.*2754C>G | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001147358] | Chr4:139475880 [GRCh38] Chr4:140397034 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) | single nucleotide variant | Skeletal dysplasia [RCV002287497]|Smith-McCort dysplasia 2 [RCV001352912] | Chr4:139472836 [GRCh38] Chr4:140393990 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.633del (p.Asp212fs) | deletion | Smith-McCort dysplasia 2 [RCV001335168] | Chr4:139473069 [GRCh38] Chr4:140394223 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.391G>T (p.Glu131Ter) | single nucleotide variant | not provided [RCV002741704] | Chr4:139472827 [GRCh38] Chr4:140393981 [GRCh37] Chr4:4q31.1 |
pathogenic|uncertain significance |
NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001420350] | Chr4:139472689 [GRCh38] Chr4:140393843 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001420351] | Chr4:139454339 [GRCh38] Chr4:140375493 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV001420352] | Chr4:139472716 [GRCh38] Chr4:140393870 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.186_192del (p.Glu63fs) | deletion | not provided [RCV001682688] | Chr4:139454380..139454386 [GRCh38] Chr4:140375534..140375540 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.197_199del (p.Ile66_Gly67delinsArg) | deletion | not provided [RCV001682689] | Chr4:139454392..139454394 [GRCh38] Chr4:140375546..140375548 [GRCh37] Chr4:4q31.1 |
pathogenic |
NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV002227903] | Chr4:139473126 [GRCh38] Chr4:140394280 [GRCh37] Chr4:4q31.1 |
uncertain significance |
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 | copy number gain | not provided [RCV001827738] | Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21 |
pathogenic |
NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala) | single nucleotide variant | Smith-McCort dysplasia 2 [RCV003130576]|not provided [RCV001895863] | Chr4:139454388 [GRCh38] Chr4:140375542 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.462T>A (p.Ser154Arg) | single nucleotide variant | not provided [RCV002023681] | Chr4:139472898 [GRCh38] Chr4:140394052 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NC_000004.11:g.(?_140375350)_(140375618_?)dup | duplication | not provided [RCV001950650] | Chr4:140375350..140375618 [GRCh37] Chr4:4q31.1 |
uncertain significance |
GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930) | copy number gain | not specified [RCV002053457] | Chr4:136035308..144718930 [GRCh37] Chr4:4q28.3-31.21 |
uncertain significance |
GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1 | copy number loss | not provided [RCV001833074] | Chr4:136529470..141564812 [GRCh37] Chr4:4q28.3-31.21 |
pathogenic |
NM_031296.3(RAB33B):c.573A>G (p.Ile191Met) | single nucleotide variant | not provided [RCV002041829] | Chr4:139473009 [GRCh38] Chr4:140394163 [GRCh37] Chr4:4q31.1 |
uncertain significance |
GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1 | copy number loss | not provided [RCV001834392] | Chr4:138289049..145923298 [GRCh37] Chr4:4q28.3-31.21 |
pathogenic |
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) | copy number gain | not specified [RCV002053446] | Chr4:104715235..145252595 [GRCh37] Chr4:4q24-31.21 |
pathogenic |
NM_031296.3(RAB33B):c.455T>A (p.Leu152Ter) | single nucleotide variant | not provided [RCV001886660] | Chr4:139472891 [GRCh38] Chr4:140394045 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.421A>G (p.Ile141Val) | single nucleotide variant | not provided [RCV001918781] | Chr4:139472857 [GRCh38] Chr4:140394011 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NC_000004.11:g.(?_140222932)_(140394280_?)del | deletion | not provided [RCV001955776] | Chr4:140222932..140394280 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.242G>C (p.Arg81Pro) | single nucleotide variant | not provided [RCV001916868] | Chr4:139454437 [GRCh38] Chr4:140375591 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.127A>C (p.Asn43His) | single nucleotide variant | not provided [RCV002010888] | Chr4:139454322 [GRCh38] Chr4:140375476 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.337G>A (p.Val113Met) | single nucleotide variant | not provided [RCV001903955] | Chr4:139472773 [GRCh38] Chr4:140393927 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.395G>T (p.Cys132Phe) | single nucleotide variant | not provided [RCV002031032] | Chr4:139472831 [GRCh38] Chr4:140393985 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.394T>C (p.Cys132Arg) | single nucleotide variant | not provided [RCV001998441] | Chr4:139472830 [GRCh38] Chr4:140393984 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.97A>C (p.Ile33Leu) | single nucleotide variant | not provided [RCV001935916] | Chr4:139454292 [GRCh38] Chr4:140375446 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.178G>T (p.Asp60Tyr) | single nucleotide variant | not provided [RCV002050565] | Chr4:139454373 [GRCh38] Chr4:140375527 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.145C>G (p.Leu49Val) | single nucleotide variant | not provided [RCV001952090] | Chr4:139454340 [GRCh38] Chr4:140375494 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.375A>G (p.Leu125=) | single nucleotide variant | not provided [RCV002187677] | Chr4:139472811 [GRCh38] Chr4:140393965 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.531G>C (p.Thr177=) | single nucleotide variant | not provided [RCV002188552] | Chr4:139472967 [GRCh38] Chr4:140394121 [GRCh37] Chr4:4q31.1 |
benign |
NM_031296.3(RAB33B):c.246C>T (p.Ile82=) | single nucleotide variant | not provided [RCV002173439] | Chr4:139454441 [GRCh38] Chr4:140375595 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.537T>C (p.Ala179=) | single nucleotide variant | not provided [RCV002079499] | Chr4:139472973 [GRCh38] Chr4:140394127 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.480A>G (p.Thr160=) | single nucleotide variant | not provided [RCV002104085] | Chr4:139472916 [GRCh38] Chr4:140394070 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.83C>T (p.Pro28Leu) | single nucleotide variant | not provided [RCV002863394] | Chr4:139454278 [GRCh38] Chr4:140375432 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.218G>T (p.Arg73Leu) | single nucleotide variant | Inborn genetic diseases [RCV002861116] | Chr4:139454413 [GRCh38] Chr4:140375567 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.78G>C (p.Leu26Phe) | single nucleotide variant | not provided [RCV002904793] | Chr4:139454273 [GRCh38] Chr4:140375427 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.14T>C (p.Met5Thr) | single nucleotide variant | Inborn genetic diseases [RCV002729504] | Chr4:139454209 [GRCh38] Chr4:140375363 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.360T>C (p.Ala120=) | single nucleotide variant | not provided [RCV002858706] | Chr4:139472796 [GRCh38] Chr4:140393950 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.546C>A (p.Pro182=) | single nucleotide variant | not provided [RCV002614321] | Chr4:139472982 [GRCh38] Chr4:140394136 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.427C>T (p.Arg143Trp) | single nucleotide variant | Inborn genetic diseases [RCV002754350] | Chr4:139472863 [GRCh38] Chr4:140394017 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.403C>T (p.His135Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002911260] | Chr4:139472839 [GRCh38] Chr4:140393993 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.42G>T (p.Ser14=) | single nucleotide variant | not provided [RCV002691048] | Chr4:139454237 [GRCh38] Chr4:140375391 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.562G>A (p.Val188Met) | single nucleotide variant | Inborn genetic diseases [RCV002821421] | Chr4:139472998 [GRCh38] Chr4:140394152 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.416A>G (p.Asn139Ser) | single nucleotide variant | not provided [RCV002805488] | Chr4:139472852 [GRCh38] Chr4:140394006 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.333C>T (p.Val111=) | single nucleotide variant | not provided [RCV002871880] | Chr4:139472769 [GRCh38] Chr4:140393923 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.561T>C (p.His187=) | single nucleotide variant | not provided [RCV002982272] | Chr4:139472997 [GRCh38] Chr4:140394151 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.681C>T (p.Cys227=) | single nucleotide variant | not provided [RCV002717032] | Chr4:139473117 [GRCh38] Chr4:140394271 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.671C>T (p.Ala224Val) | single nucleotide variant | not provided [RCV002588295] | Chr4:139473107 [GRCh38] Chr4:140394261 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.250-20C>T | single nucleotide variant | not provided [RCV002608206] | Chr4:139472666 [GRCh38] Chr4:140393820 [GRCh37] Chr4:4q31.1 |
likely benign |
NM_031296.3(RAB33B):c.174C>A (p.Phe58Leu) | single nucleotide variant | not provided [RCV002814820] | Chr4:139454369 [GRCh38] Chr4:140375523 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.94C>T (p.Arg32Cys) | single nucleotide variant | Inborn genetic diseases [RCV003193277] | Chr4:139454289 [GRCh38] Chr4:140375443 [GRCh37] Chr4:4q31.1 |
uncertain significance |
NM_031296.3(RAB33B):c.186C>G (p.Thr62=) | single nucleotide variant | not provided [RCV003543878] | Chr4:139454381 [GRCh38] Chr4:140375535 [GRCh37] Chr4:4q31.1 |
likely benign |
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 | copy number gain | not provided [RCV003484198] | Chr4:117518683..168174703 [GRCh37] Chr4:4q26-32.3 |
pathogenic |
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. |
D1S1423 |
|
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 | 184 | 814 | 152 | 116 | 479 | 118 | 745 | 93 | 583 | 84 | 294 | 225 | 140 | 477 | 1 | |||
Low | 2253 | 2149 | 1574 | 508 | 1448 | 347 | 3610 | 2100 | 3149 | 334 | 1166 | 1388 | 174 | 1 | 1064 | 2311 | 5 | 2 |
Below cutoff | 1 | 28 | 24 | 1 | 4 | 2 | 1 |
RefSeq Transcripts | NG_051587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_031296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC114743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF350420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313685 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC036064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC111977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000305626 ⟹ ENSP00000306496 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000507271 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000652268 ⟹ ENSP00000498778 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_031296 ⟹ NP_112586 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011532299 ⟹ XP_011530601 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054350952 ⟹ XP_054206927 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_112586 | (Get FASTA) | NCBI Sequence Viewer |
XP_011530601 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206927 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH36064 | (Get FASTA) | NCBI Sequence Viewer |
AAI11978 | (Get FASTA) | NCBI Sequence Viewer | |
AAL83916 | (Get FASTA) | NCBI Sequence Viewer | |
AAY40936 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36434 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66838 | (Get FASTA) | NCBI Sequence Viewer | |
EAX05116 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000306496 | ||
ENSP00000306496.5 | |||
ENSP00000498778 | |||
ENSP00000498778.1 | |||
GenBank Protein | Q9H082 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_112586 ⟸ NM_031296 |
- UniProtKB: | B2R987 (UniProtKB/Swiss-Prot), Q4W5B0 (UniProtKB/Swiss-Prot), Q9H082 (UniProtKB/Swiss-Prot), Q5U602 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011530601 ⟸ XM_011532299 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A494C0Z5 (UniProtKB/TrEMBL), Q5U602 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000498778 ⟸ ENST00000652268 |
RefSeq Acc Id: | ENSP00000306496 ⟸ ENST00000305626 |
RefSeq Acc Id: | XP_054206927 ⟸ XM_054350952 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A494C0Z5 (UniProtKB/TrEMBL), Q5U602 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H082-F1-model_v2 | AlphaFold | Q9H082 | 1-229 | view protein structure |
RGD ID: | 6868514 | ||||||||
Promoter ID: | EPDNEW_H7421 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB33B_1 | ||||||||
Description: | RAB33B, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H7422 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6868516 | ||||||||
Promoter ID: | EPDNEW_H7422 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB33B_2 | ||||||||
Description: | RAB33B, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H7421 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6802548 | ||||||||
Promoter ID: | HG_KWN:49160 | ||||||||
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: | OTTHUMT00000257235 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:16075 | AgrOrtholog |
COSMIC | RAB33B | COSMIC |
Ensembl Genes | ENSG00000172007 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000305626 | ENTREZGENE |
ENST00000305626.6 | UniProtKB/Swiss-Prot | |
ENST00000652268 | ENTREZGENE | |
ENST00000652268.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000172007 | GTEx |
HGNC ID | HGNC:16075 | ENTREZGENE |
Human Proteome Map | RAB33B | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Rab33A/B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:83452 | UniProtKB/Swiss-Prot |
NCBI Gene | 83452 | ENTREZGENE |
OMIM | 605950 | OMIM |
PANTHER | PTHR47978 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAS-RELATED PROTEIN RAB-33B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Ras | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34125 | PharmGKB |
PRINTS | RASTRNSFRMNG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | ARF | UniProtKB/TrEMBL |
RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS | UniProtKB/TrEMBL | |
SMART | 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 | A0A494C0Z5 | ENTREZGENE, UniProtKB/TrEMBL |
B2R987 | ENTREZGENE | |
Q4W5B0 | ENTREZGENE | |
Q5U602 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9H082 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B2R987 | UniProtKB/Swiss-Prot |
Q4W5B0 | UniProtKB/Swiss-Prot |