Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chemical and Drug Induced Liver Injury | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25231249 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chemical and Drug Induced Liver Injury | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25231249 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:2461292 | PMID:3782288 | PMID:3999141 | PMID:7790358 | PMID:9921901 | PMID:10908577 | PMID:11076968 | PMID:11118478 | PMID:11120798 | PMID:11487543 | PMID:12037579 | PMID:12052866 |
PMID:12221128 | PMID:12477932 | PMID:12486001 | PMID:12852856 | PMID:12927047 | PMID:14594945 | PMID:14702039 | PMID:14760703 | PMID:15331610 | PMID:15489334 | PMID:15548702 | PMID:15634916 |
PMID:15635413 | PMID:15691386 | PMID:15698476 | PMID:15952740 | PMID:16105984 | PMID:16130169 | PMID:16169070 | PMID:16226712 | PMID:16462731 | PMID:16526095 | PMID:16712791 | PMID:17081983 |
PMID:17207965 | PMID:17360745 | PMID:17620599 | PMID:17627938 | PMID:17643375 | PMID:17955473 | PMID:18029348 | PMID:18384219 | PMID:18458804 | PMID:18613978 | PMID:19167051 | PMID:19380743 |
PMID:19394292 | PMID:19738201 | PMID:19996274 | PMID:20131911 | PMID:20458337 | PMID:20462248 | PMID:20467437 | PMID:20473970 | PMID:20682791 | PMID:20872967 | PMID:21044950 | PMID:21080425 |
PMID:21081503 | PMID:21081666 | PMID:21145461 | PMID:21266579 | PMID:21319273 | PMID:21360678 | PMID:21525035 | PMID:21532586 | PMID:21565611 | PMID:21630459 | PMID:21873635 | PMID:21942715 |
PMID:21988832 | PMID:22145905 | PMID:22174317 | PMID:22264600 | PMID:22337587 | PMID:22360420 | PMID:22623428 | PMID:22810585 | PMID:22863883 | PMID:22939629 | PMID:22963397 | PMID:23042605 |
PMID:23184937 | PMID:23246001 | PMID:23376485 | PMID:23398456 | PMID:23443559 | PMID:23455922 | PMID:23463506 | PMID:23533145 | PMID:23686814 | PMID:23703321 | PMID:23826228 | PMID:23956138 |
PMID:23979707 | PMID:24244333 | PMID:24275654 | PMID:24332808 | PMID:24337577 | PMID:24457600 | PMID:24625528 | PMID:24657165 | PMID:24711643 | PMID:24769233 | PMID:25147182 | PMID:25324306 |
PMID:25437307 | PMID:25458010 | PMID:25468996 | PMID:25798074 | PMID:25864199 | PMID:25921289 | PMID:25940091 | PMID:25959826 | PMID:25963833 | PMID:25996949 | PMID:26186194 | PMID:26344197 |
PMID:26460568 | PMID:26485645 | PMID:26496610 | PMID:26549023 | PMID:26561776 | PMID:26638075 | PMID:26643866 | PMID:26673895 | PMID:26687479 | PMID:26725010 | PMID:26735018 | PMID:26748699 |
PMID:26831064 | PMID:26972000 | PMID:27025967 | PMID:27129302 | PMID:27248496 | PMID:27342126 | PMID:27371349 | PMID:27503909 | PMID:27545878 | PMID:27591049 | PMID:27684187 | PMID:27976729 |
PMID:28186131 | PMID:28302793 | PMID:28325877 | PMID:28330616 | PMID:28378594 | PMID:28443643 | PMID:28514442 | PMID:28515276 | PMID:28581483 | PMID:28648944 | PMID:28685749 | PMID:28927264 |
PMID:28977666 | PMID:29117863 | PMID:29198720 | PMID:29229926 | PMID:29331416 | PMID:29435596 | PMID:29467282 | PMID:29507755 | PMID:29513927 | PMID:29676528 | PMID:29777862 | PMID:29845934 |
PMID:29859926 | PMID:29955894 | PMID:30009671 | PMID:30026490 | PMID:30209976 | PMID:30258100 | PMID:30349055 | PMID:30425250 | PMID:30442662 | PMID:30455355 | PMID:30463901 | PMID:30554943 |
PMID:30559450 | PMID:30575818 | PMID:30619736 | PMID:30745168 | PMID:30804502 | PMID:30809309 | PMID:30865227 | PMID:30940648 | PMID:30997501 | PMID:31010829 | PMID:31046837 | PMID:31180492 |
PMID:31239290 | PMID:31253590 | PMID:31300519 | PMID:31353912 | PMID:31375012 | PMID:31501420 | PMID:31527668 | PMID:31620119 | PMID:31669268 | PMID:31980649 | PMID:32129710 | PMID:32140098 |
PMID:32322062 | PMID:32529326 | PMID:32552912 | PMID:32687490 | PMID:32698014 | PMID:32786267 | PMID:32807901 | PMID:32850835 | PMID:32905556 | PMID:32929329 | PMID:32994395 | PMID:33022573 |
PMID:33080218 | PMID:33111431 | PMID:33194618 | PMID:33397691 | PMID:33536335 | PMID:33545068 | PMID:33567341 | PMID:33644029 | PMID:33711283 | PMID:33729478 | PMID:33762435 | PMID:33916271 |
PMID:33961781 | PMID:34079125 | PMID:34185411 | PMID:34316702 | PMID:34462429 | PMID:34551306 | PMID:34581821 | PMID:34634033 | PMID:34642328 | PMID:34644545 | PMID:34650049 | PMID:34662580 |
PMID:34687317 | PMID:34728620 | PMID:34857952 | PMID:34921745 | PMID:35007762 | PMID:35013218 | PMID:35124280 | PMID:35173535 | PMID:35182466 | PMID:35240325 | PMID:35256949 | PMID:35271311 |
PMID:35338135 | PMID:35446349 | PMID:35509820 | PMID:35545034 | PMID:35562734 | PMID:35583604 | PMID:35676246 | PMID:35676659 | PMID:35819319 | PMID:35831314 | PMID:35831895 | PMID:35844135 |
PMID:35914814 | PMID:35944360 | PMID:36030824 | PMID:36042349 | PMID:36057605 | PMID:36114006 | PMID:36123327 | PMID:36180891 | PMID:36191189 | PMID:36199071 | PMID:36215168 | PMID:36273042 |
PMID:36282215 | PMID:36307841 | PMID:36373674 | PMID:36376293 | PMID:36424410 | PMID:36517590 | PMID:36526897 | PMID:36574265 | PMID:36762613 | PMID:36779763 | PMID:36793866 | PMID:36896912 |
PMID:36912080 | PMID:36929488 | PMID:37120454 | PMID:37616343 | PMID:37689310 | PMID:38113892 | PMID:38245532 |
TUBB4B (Homo sapiens - human) |
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Tubb4b (Mus musculus - house mouse) |
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Tubb4b (Rattus norvegicus - Norway rat) |
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Tubb4b (Chinchilla lanigera - long-tailed chinchilla) |
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TUBB4B (Pan paniscus - bonobo/pygmy chimpanzee) |
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TUBB4B (Canis lupus familiaris - dog) |
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Tubb4b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TUBB4B (Sus scrofa - pig) |
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TUBB4B (Chlorocebus sabaeus - green monkey) |
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Tubb4b (Heterocephalus glaber - naked mole-rat) |
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.
Variants in TUBB4B
65 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | See cases [RCV000050344] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 | copy number loss | See cases [RCV000051116] | Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 | copy number loss | See cases [RCV000052936] | Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 | copy number loss | See cases [RCV000052937] | Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1 | copy number loss | See cases [RCV000052887] | Chr9:137092629..137375788 [GRCh38] Chr9:139987081..140270240 [GRCh37] Chr9:139106902..139390061 [NCBI36] Chr9:9q34.3 |
uncertain significance |
GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1 | copy number loss | See cases [RCV000052951] | Chr9:137215877..137830604 [GRCh38] Chr9:140110329..140725056 [GRCh37] Chr9:139230150..139844877 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] | Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 | copy number loss | See cases [RCV000052940] | Chr9:136926575..138114463 [GRCh38] Chr9:139821027..141008915 [GRCh37] Chr9:138940848..140128736 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 | copy number loss | See cases [RCV000052941] | Chr9:137215877..138138735 [GRCh38] Chr9:140110329..141033187 [GRCh37] Chr9:139230150..140153008 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 | copy number gain | See cases [RCV000053814] | Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
Single allele | deletion | Epilepsy [RCV001293379] | Chr9:139764148..141066491 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 | copy number gain | See cases [RCV000133778] | Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 | copy number gain | See cases [RCV000136790] | Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 | copy number gain | See cases [RCV000137825] | Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 | copy number gain | See cases [RCV000139807] | Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 | copy number gain | See cases [RCV000142955] | Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 | copy number loss | See cases [RCV000142978] | Chr9:136877772..138124524 [GRCh38] Chr9:139772224..141018976 [GRCh37] Chr9:138892045..140138797 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 | copy number gain | See cases [RCV000142636] | Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3 | copy number gain | See cases [RCV000142744] | Chr9:137092629..137270028 [GRCh38] Chr9:139987081..140164480 [GRCh37] Chr9:139106902..139284301 [NCBI36] Chr9:9q34.3 |
benign |
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 | copy number gain | See cases [RCV000143394] | Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3 |
likely pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | See cases [RCV000148284] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) | single nucleotide variant | Leber congenital amaurosis with early-onset deafness [RCV000584731]|not provided [RCV001683598] | Chr9:137243390 [GRCh38] Chr9:140137842 [GRCh37] Chr9:9q34.3 |
pathogenic|likely pathogenic |
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) | single nucleotide variant | Leber congenital amaurosis with early-onset deafness [RCV000584738]|not provided [RCV001755979] | Chr9:137243389 [GRCh38] Chr9:140137841 [GRCh37] Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 | copy number loss | See cases [RCV000446074] | Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 | copy number loss | See cases [RCV000446191] | Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 | copy number loss | See cases [RCV000448743] | Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 | copy number loss | See cases [RCV000510584] | Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 | copy number gain | See cases [RCV000511188] | Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 | copy number loss | mTOR Inhibitor response [RCV000626442] | Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 | copy number gain | not provided [RCV000683160] | Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:140094273-140167730)x3 | copy number gain | not provided [RCV000753240] | Chr9:140094273..140167730 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:140094273-140218212)x3 | copy number gain | not provided [RCV000753241] | Chr9:140094273..140218212 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:140094273-140332474)x3 | copy number gain | not provided [RCV000753243] | Chr9:140094273..140332474 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:140094273-140218283)x3 | copy number gain | not provided [RCV000753242] | Chr9:140094273..140218283 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 | copy number loss | not provided [RCV000748787] | Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NC_000009.11:g.(?_138645763)_(140729425_?)del | deletion | Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] | Chr9:138645763..140729425 [GRCh37] Chr9:9q34.3 |
pathogenic|uncertain significance |
NM_006088.6(TUBB4B):c.1035C>T (p.Ile345=) | single nucleotide variant | not provided [RCV000880456] | Chr9:137243253 [GRCh38] Chr9:140137705 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.1183C>T (p.Leu395=) | single nucleotide variant | not provided [RCV000924960] | Chr9:137243401 [GRCh38] Chr9:140137853 [GRCh37] Chr9:9q34.3 |
likely benign |
GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3 | copy number gain | not provided [RCV000848688] | Chr9:139766260..140186072 [GRCh37] Chr9:9q34.3 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3 | copy number gain | not provided [RCV000847406] | Chr9:140064816..140759229 [GRCh37] Chr9:9q34.3 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NC_000009.11:g.(?_139089171)_(141016451_?)del | deletion | Rafiq syndrome [RCV003122293]|not provided [RCV003105304] | Chr9:139089171..141016451 [GRCh37] Chr9:9q34.3 |
pathogenic|no classifications from unflagged records |
NM_006088.6(TUBB4B):c.-29C>A | single nucleotide variant | not provided [RCV001540147] | Chr9:137241332 [GRCh38] Chr9:140135784 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.189C>G (p.Ala63=) | single nucleotide variant | not provided [RCV000917605] | Chr9:137241933 [GRCh38] Chr9:140136385 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.567C>T (p.Val189=) | single nucleotide variant | not provided [RCV000954952] | Chr9:137242785 [GRCh38] Chr9:140137237 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.58-7C>T | single nucleotide variant | not provided [RCV003106654] | Chr9:137241714 [GRCh38] Chr9:140136166 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.166+13C>T | single nucleotide variant | not provided [RCV001612183] | Chr9:137241842 [GRCh38] Chr9:140136294 [GRCh37] Chr9:9q34.3 |
benign |
NC_000009.12:g.(?_137139467)_(137834973_?)del | deletion | Kleefstra syndrome 1 [RCV001031572] | Chr9:140033919..140729425 [GRCh37] Chr9:9q34.3 |
pathogenic |
NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs) | microsatellite | Leber congenital amaurosis with early-onset deafness [RCV001198951] | Chr9:137242802..137242803 [GRCh38] Chr9:140137254..140137255 [GRCh37] Chr9:9q34.3 |
uncertain significance |
GRCh37/hg19 9q34.3(chr9:138225001-141015001) | copy number loss | Microcephaly [RCV001252947] | Chr9:138225001..141015001 [GRCh37] Chr9:9q34.3 |
pathogenic |
NC_000009.11:g.(?_139018777)_(141018984_?)del | deletion | Kleefstra syndrome 1 [RCV001267844] | Chr9:139018777..141018984 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3 | copy number gain | not provided [RCV001259536] | Chr9:139776707..140234193 [GRCh37] Chr9:9q34.3 |
uncertain significance |
GRCh37/hg19 9q34.3(chr9:139284464-141018984) | copy number loss | Cryptorchidism [RCV001352666] | Chr9:139284464..141018984 [GRCh37] Chr9:9q34.3 |
pathogenic |
NM_006088.6(TUBB4B):c.278-119C>G | single nucleotide variant | not provided [RCV001681368] | Chr9:137242377 [GRCh38] Chr9:140136829 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.-62G>T | single nucleotide variant | not provided [RCV001651357] | Chr9:137241299 [GRCh38] Chr9:140135751 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.19T>G (p.Leu7Val) | single nucleotide variant | not specified [RCV002248920] | Chr9:137241379 [GRCh38] Chr9:140135831 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.1197G>A (p.Thr399=) | single nucleotide variant | not provided [RCV002025556] | Chr9:137243415 [GRCh38] Chr9:140137867 [GRCh37] Chr9:9q34.3 |
likely benign|uncertain significance |
GRCh37/hg19 9q34.3(chr9:139563039-140310033) | copy number loss | not specified [RCV002052853] | Chr9:139563039..140310033 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.76G>C (p.Asp26His) | single nucleotide variant | not provided [RCV001988562] | Chr9:137241739 [GRCh38] Chr9:140136191 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser) | single nucleotide variant | Leber congenital amaurosis with early-onset deafness [RCV001837733]|not provided [RCV003389263] | Chr9:137243290 [GRCh38] Chr9:140137742 [GRCh37] Chr9:9q34.3 |
pathogenic|uncertain significance |
GRCh37/hg19 9q34.3(chr9:138740078-141020389) | copy number loss | not specified [RCV002052850] | Chr9:138740078..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9q34.3(chr9:140043049-141020389) | copy number loss | not specified [RCV002052854] | Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) | copy number gain | not specified [RCV002053823] | Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_006088.6(TUBB4B):c.665dup (p.Tyr222Ter) | duplication | not provided [RCV001911768] | Chr9:137242882..137242883 [GRCh38] Chr9:140137334..140137335 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NC_000009.11:g.(?_139943109)_(140269288_?)dup | duplication | Intellectual disability, autosomal dominant 8 [RCV001996989] | Chr9:139943109..140269288 [GRCh37] Chr9:9q34.3 |
uncertain significance |
GRCh37/hg19 9q34.3(chr9:139282807-141020389) | copy number loss | not specified [RCV002052852] | Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
NM_006088.6(TUBB4B):c.935C>T (p.Thr312Met) | single nucleotide variant | not provided [RCV001998334] | Chr9:137243153 [GRCh38] Chr9:140137605 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.1233C>G (p.Ala411=) | single nucleotide variant | not provided [RCV002188641] | Chr9:137243451 [GRCh38] Chr9:140137903 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.738C>A (p.Leu246=) | single nucleotide variant | not provided [RCV002146663] | Chr9:137242956 [GRCh38] Chr9:140137408 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.474G>A (p.Glu158=) | single nucleotide variant | not provided [RCV002187264] | Chr9:137242692 [GRCh38] Chr9:140137144 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.334C>T (p.Leu112=) | single nucleotide variant | not provided [RCV002209690] | Chr9:137242552 [GRCh38] Chr9:140137004 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.784C>T (p.Arg262Trp) | single nucleotide variant | not provided [RCV002225989] | Chr9:137243002 [GRCh38] Chr9:140137454 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.12C>T (p.Ile4=) | single nucleotide variant | not provided [RCV002145100] | Chr9:137241372 [GRCh38] Chr9:140135824 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.162C>T (p.Ala54=) | single nucleotide variant | not provided [RCV002133459] | Chr9:137241825 [GRCh38] Chr9:140136277 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.57+10C>T | single nucleotide variant | not provided [RCV002187331] | Chr9:137241427 [GRCh38] Chr9:140135879 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.1044T>C (p.Asn348=) | single nucleotide variant | not provided [RCV002116130] | Chr9:137243262 [GRCh38] Chr9:140137714 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.243C>T (p.Phe81=) | single nucleotide variant | not provided [RCV002145051] | Chr9:137241987 [GRCh38] Chr9:140136439 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.1200C>T (p.Gly400=) | single nucleotide variant | not provided [RCV002213960] | Chr9:137243418 [GRCh38] Chr9:140137870 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.1260C>T (p.Ser420=) | single nucleotide variant | not provided [RCV002150497] | Chr9:137243478 [GRCh38] Chr9:140137930 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.277+7C>T | single nucleotide variant | not provided [RCV002193895] | Chr9:137242028 [GRCh38] Chr9:140136480 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.1284C>T (p.Ala428=) | single nucleotide variant | not provided [RCV002150241] | Chr9:137243502 [GRCh38] Chr9:140137954 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.1140C>T (p.Arg380=) | single nucleotide variant | not provided [RCV002101331] | Chr9:137243358 [GRCh38] Chr9:140137810 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.166+10C>T | single nucleotide variant | not provided [RCV002153935] | Chr9:137241839 [GRCh38] Chr9:140136291 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.117C>T (p.Asp39=) | single nucleotide variant | not provided [RCV002179757] | Chr9:137241780 [GRCh38] Chr9:140136232 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.144C>T (p.Asn48=) | single nucleotide variant | not provided [RCV002164704] | Chr9:137241807 [GRCh38] Chr9:140136259 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.597C>T (p.Thr199=) | single nucleotide variant | not provided [RCV002135406] | Chr9:137242815 [GRCh38] Chr9:140137267 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.861C>G (p.Pro287=) | single nucleotide variant | not provided [RCV002156804] | Chr9:137243079 [GRCh38] Chr9:140137531 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.123C>T (p.Asp41=) | single nucleotide variant | not provided [RCV002183209] | Chr9:137241786 [GRCh38] Chr9:140136238 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.167-12C>T | single nucleotide variant | not provided [RCV002138772] | Chr9:137241899 [GRCh38] Chr9:140136351 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.1221G>A (p.Glu407=) | single nucleotide variant | not provided [RCV002179368] | Chr9:137243439 [GRCh38] Chr9:140137891 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.240C>T (p.Pro80=) | single nucleotide variant | not provided [RCV002156624] | Chr9:137241984 [GRCh38] Chr9:140136436 [GRCh37] Chr9:9q34.3 |
likely benign |
NC_000009.11:g.(?_140040158)_(141016451_?)del | deletion | Intellectual disability, autosomal dominant 8 [RCV003109674]|Kleefstra syndrome 1 [RCV003116549] | Chr9:140040158..141016451 [GRCh37] Chr9:9q34.3 |
pathogenic|uncertain significance |
NC_000009.11:g.(?_140036445)_(140138008_?)dup | duplication | Intellectual disability, autosomal dominant 8 [RCV003109676] | Chr9:140036445..140138008 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NC_000009.11:g.(?_138392557)_(141016451_?)del | deletion | Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] | Chr9:138392557..141016451 [GRCh37] Chr9:9q34.3 |
pathogenic|uncertain significance |
NC_000009.11:g.(?_131087402)_(141016451_?)dup | duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] | Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3 |
uncertain significance |
NC_000009.11:g.(?_136218768)_(141016451_?)dup | duplication | Kleefstra syndrome 1 [RCV003122719] | Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.552C>T (p.Asn184=) | single nucleotide variant | not provided [RCV002967661] | Chr9:137242770 [GRCh38] Chr9:140137222 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.776C>T (p.Pro259Leu) | single nucleotide variant | not provided [RCV002474053] | Chr9:137242994 [GRCh38] Chr9:140137446 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.1197G>C (p.Thr399=) | single nucleotide variant | not provided [RCV002838212] | Chr9:137243415 [GRCh38] Chr9:140137867 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.849G>A (p.Ala283=) | single nucleotide variant | not provided [RCV002995525] | Chr9:137243067 [GRCh38] Chr9:140137519 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.327C>T (p.Gly109=) | single nucleotide variant | not provided [RCV002972561] | Chr9:137242545 [GRCh38] Chr9:140136997 [GRCh37] Chr9:9q34.3 |
benign|likely benign |
NM_006088.6(TUBB4B):c.1053G>A (p.Thr351=) | single nucleotide variant | not provided [RCV002616305] | Chr9:137243271 [GRCh38] Chr9:140137723 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.1159G>T (p.Ala387Ser) | single nucleotide variant | not provided [RCV002858595] | Chr9:137243377 [GRCh38] Chr9:140137829 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.561C>T (p.Leu187=) | single nucleotide variant | not provided [RCV002923095] | Chr9:137242779 [GRCh38] Chr9:140137231 [GRCh37] Chr9:9q34.3 |
benign |
NM_006088.6(TUBB4B):c.534A>G (p.Thr178=) | single nucleotide variant | not provided [RCV002591629] | Chr9:137242752 [GRCh38] Chr9:140137204 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.318C>T (p.Tyr106=) | single nucleotide variant | not provided [RCV002591649] | Chr9:137242536 [GRCh38] Chr9:140136988 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.57+15C>T | single nucleotide variant | not provided [RCV002705746] | Chr9:137241432 [GRCh38] Chr9:140135884 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.672C>T (p.Asp224=) | single nucleotide variant | not provided [RCV002639268] | Chr9:137242890 [GRCh38] Chr9:140137342 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.537G>C (p.Val179=) | single nucleotide variant | not provided [RCV002591271] | Chr9:137242755 [GRCh38] Chr9:140137207 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.58-16C>T | single nucleotide variant | not provided [RCV002572536] | Chr9:137241705 [GRCh38] Chr9:140136157 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.166+7C>T | single nucleotide variant | not provided [RCV002595720] | Chr9:137241836 [GRCh38] Chr9:140136288 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.278-4A>G | single nucleotide variant | not provided [RCV002593540] | Chr9:137242492 [GRCh38] Chr9:140136944 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.108C>T (p.Tyr36=) | single nucleotide variant | not provided [RCV002666702] | Chr9:137241771 [GRCh38] Chr9:140136223 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.621C>G (p.Leu207=) | single nucleotide variant | not provided [RCV002596328] | Chr9:137242839 [GRCh38] Chr9:140137291 [GRCh37] Chr9:9q34.3 |
benign |
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1 | copy number loss | See cases [RCV002640756] | Chr9:134962336..137240181 [GRCh38] Chr9:9q34.3 |
pathogenic |
NM_006088.6(TUBB4B):c.207G>A (p.Glu69=) | single nucleotide variant | not provided [RCV003009227] | Chr9:137241951 [GRCh38] Chr9:140136403 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.278-16C>G | single nucleotide variant | not provided [RCV003029323] | Chr9:137242480 [GRCh38] Chr9:140136932 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.345G>T (p.Ser115=) | single nucleotide variant | not provided [RCV002649619] | Chr9:137242563 [GRCh38] Chr9:140137015 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.1251C>T (p.Asp417=) | single nucleotide variant | not provided [RCV002633833] | Chr9:137243469 [GRCh38] Chr9:140137921 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.682C>T (p.Leu228=) | single nucleotide variant | not provided [RCV002583170] | Chr9:137242900 [GRCh38] Chr9:140137352 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.402G>A (p.Gln134=) | single nucleotide variant | not provided [RCV002612113] | Chr9:137242620 [GRCh38] Chr9:140137072 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.349C>T (p.Leu117=) | single nucleotide variant | not provided [RCV003223325] | Chr9:137242567 [GRCh38] Chr9:140137019 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.526_527delinsAT (p.Ser176Ile) | indel | not provided [RCV003221577] | Chr9:137242744..137242745 [GRCh38] Chr9:140137196..140137197 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.785G>A (p.Arg262Gln) | single nucleotide variant | not provided [RCV003328999] | Chr9:137243003 [GRCh38] Chr9:140137455 [GRCh37] Chr9:9q34.3 |
uncertain significance |
NM_006088.6(TUBB4B):c.111C>T (p.His37=) | single nucleotide variant | not provided [RCV003874253] | Chr9:137241774 [GRCh38] Chr9:140136226 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.278-3C>T | single nucleotide variant | not provided [RCV003569170] | Chr9:137242493 [GRCh38] Chr9:140136945 [GRCh37] Chr9:9q34.3 |
uncertain significance |
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 | copy number gain | not provided [RCV003484786] | Chr9:136988996..141020389 [GRCh37] Chr9:9q34.2-34.3 |
pathogenic |
NM_006088.6(TUBB4B):c.1206C>A (p.Gly402=) | single nucleotide variant | not provided [RCV003457582] | Chr9:137243424 [GRCh38] Chr9:140137876 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.591C>T (p.Asp197=) | single nucleotide variant | not provided [RCV003879398] | Chr9:137242809 [GRCh38] Chr9:140137261 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.58-4dup | duplication | not provided [RCV003824631] | Chr9:137241716..137241717 [GRCh38] Chr9:140136168..140136169 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.1302C>T (p.Gly434=) | single nucleotide variant | not provided [RCV003574063] | Chr9:137243520 [GRCh38] Chr9:140137972 [GRCh37] Chr9:9q34.3 |
likely benign |
NM_006088.6(TUBB4B):c.306C>T (p.Ala102=) | single nucleotide variant | not provided [RCV003875738] | Chr9:137242524 [GRCh38] Chr9:140136976 [GRCh37] Chr9:9q34.3 |
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. |
D9S188E |
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RH71271 |
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DXS7003E |
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MARC_5253-5254:996690193:1 |
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RH93426 |
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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 | adipose tissue | appendage | entire extraembryonic component | |
High | 67 | 1 | 16 | 11 | 5 | 11 | 26 | 12 | 30 | 21 | 466 | 85 | 9 | 1 | 1 | |
Medium | 2365 | 2983 | 1707 | 611 | 1943 | 453 | 4329 | 2181 | 3678 | 397 | 982 | 1523 | 162 | 1203 | 2787 | 4 |
Low | ||||||||||||||||
Below cutoff |
RefSeq Transcripts | NM_006088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AF064849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK000560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK021414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK098686 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY167990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001911 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002885 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC024038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC029529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC039175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX255925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX648521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB139156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GQ901018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X02344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000340384 ⟹ ENSP00000341289 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000604929 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_006088 ⟹ NP_006079 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_006079 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH01911 | (Get FASTA) | NCBI Sequence Viewer |
AAH02783 | (Get FASTA) | NCBI Sequence Viewer | |
AAH02885 | (Get FASTA) | NCBI Sequence Viewer | |
AAH04188 | (Get FASTA) | NCBI Sequence Viewer | |
AAH07889 | (Get FASTA) | NCBI Sequence Viewer | |
AAH08006 | (Get FASTA) | NCBI Sequence Viewer | |
AAH12835 | (Get FASTA) | NCBI Sequence Viewer | |
AAH19359 | (Get FASTA) | NCBI Sequence Viewer | |
AAH19829 | (Get FASTA) | NCBI Sequence Viewer | |
AAH24038 | (Get FASTA) | NCBI Sequence Viewer | |
AAH29529 | (Get FASTA) | NCBI Sequence Viewer | |
AAH39175 | (Get FASTA) | NCBI Sequence Viewer | |
AAH71889 | (Get FASTA) | NCBI Sequence Viewer | |
AAN87335 | (Get FASTA) | NCBI Sequence Viewer | |
ADO22535 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51031 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60373 | (Get FASTA) | NCBI Sequence Viewer | |
CAA26203 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88368 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88369 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88370 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000341289 | ||
ENSP00000341289.4 | |||
GenBank Protein | P68371 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006079 ⟸ NM_006088 |
- UniProtKB: | A2BFA2 (UniProtKB/Swiss-Prot), P05217 (UniProtKB/Swiss-Prot), P68371 (UniProtKB/Swiss-Prot), Q8IZ29 (UniProtKB/TrEMBL), Q8N6N5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000341289 ⟸ ENST00000340384 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P68371-F1-model_v2 | AlphaFold | P68371 | 1-445 | view protein structure |
RGD ID: | 7216791 | ||||||||
Promoter ID: | EPDNEW_H14141 | ||||||||
Type: | initiation region | ||||||||
Name: | TUBB4B_1 | ||||||||
Description: | tubulin beta 4B class IVb | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6808348 | ||||||||
Promoter ID: | HG_KWN:65732 | ||||||||
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: | OTTHUMT00000254715, UC004CMG.1 | ||||||||
Position: |
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RGD ID: | 6849454 | ||||||||
Promoter ID: | EP14031 | ||||||||
Type: | single initiation site | ||||||||
Name: | HS_TUBB2 | ||||||||
Description: | beta-tubulin beta 2. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Tissues & Cell Lines: | various cell types | ||||||||
Experiment Methods: | Nuclease protection; Primer extension with homologous sequence ladder | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:20771 | AgrOrtholog |
COSMIC | TUBB4B | COSMIC |
Ensembl Genes | ENSG00000188229 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000340384 | ENTREZGENE |
ENST00000340384.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.287.600 | UniProtKB/Swiss-Prot |
3.30.1330.20 | UniProtKB/Swiss-Prot | |
3.40.50.1440 | UniProtKB/Swiss-Prot | |
Helix hairpin bin | UniProtKB/TrEMBL | |
Tubulin/FtsZ, C-terminal domain | UniProtKB/TrEMBL | |
Tubulin/FtsZ, GTPase domain | UniProtKB/TrEMBL | |
GTEx | ENSG00000188229 | GTEx |
HGNC ID | HGNC:20771 | ENTREZGENE |
Human Proteome Map | TUBB4B | Human Proteome Map |
InterPro | Beta-tubulin_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Beta_tubulin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tub_FtsZ_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tubulin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tubulin/FtsZ-like_C | UniProtKB/TrEMBL | |
Tubulin/FtsZ_2-layer-sand-dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tubulin/FtsZ_C_sf | UniProtKB/Swiss-Prot | |
Tubulin/FtsZ_GTPase_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tubulin_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tubulin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tubulin_FtsZ_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:10383 | UniProtKB/Swiss-Prot |
NCBI Gene | 10383 | ENTREZGENE |
OMIM | 602660 | OMIM |
PANTHER | PTHR11588 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TUBULIN BETA-4B CHAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Tubulin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Tubulin_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA142670672 | PharmGKB |
PRINTS | BETATUBULIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TUBULIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | TUBULIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TUBULIN_B_AUTOREG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | Tubulin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Tubulin_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF52490 | UniProtKB/Swiss-Prot |
SSF55307 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tubulin nucleotide-binding domain-like | UniProtKB/TrEMBL | |
UniProt | A2BFA2 | ENTREZGENE |
P05217 | ENTREZGENE | |
P68371 | ENTREZGENE | |
Q8IZ29 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8N6N5 | ENTREZGENE, UniProtKB/TrEMBL | |
TBB4B_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A2BFA2 | UniProtKB/Swiss-Prot |
P05217 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-22 | TUBB4B | tubulin beta 4B class IVb | tubulin, beta 4B class IVb | Symbol and/or name change | 5135510 | APPROVED | |
2011-10-18 | TUBB4B | tubulin, beta 4B class IVb | TUBB2C | tubulin, beta 2C | Symbol and/or name change | 5135510 | APPROVED |