Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive chronic granulomatous disease 5 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive chronic granulomatous disease 5 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8125298 | PMID:8889548 | PMID:12477932 | PMID:12878157 | PMID:14702039 | PMID:15146197 | PMID:15489334 | PMID:16344560 | PMID:17207965 | PMID:18464913 | PMID:20195357 | PMID:21503106 |
PMID:21516116 | PMID:22876374 | PMID:24623722 | PMID:25279986 | PMID:25416956 | PMID:26186194 | PMID:27432908 | PMID:28351984 | PMID:28514442 | PMID:29180619 | PMID:30312704 | PMID:30361506 |
PMID:31862710 | PMID:32296183 | PMID:33961781 | PMID:34280579 | PMID:35271311 | PMID:36215168 | PMID:36949045 |
CYBC1 (Homo sapiens - human) |
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Cybc1 (Mus musculus - house mouse) |
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Cybc1 (Rattus norvegicus - Norway rat) |
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LOC102009633 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100980585 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CYBC1 (Canis lupus familiaris - dog) |
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LOC101970439 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CYBC1 (Sus scrofa - pig) |
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LOC103243771 (Chlorocebus sabaeus - green monkey) |
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CUNH17orf62 (Heterocephalus glaber - naked mole-rat) |
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Variants in CYBC1
150 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 | copy number gain | See cases [RCV000050934] | Chr17:78901959..83086677 [GRCh38] Chr17:76898041..81044553 [GRCh37] Chr17:74409636..78637842 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 | copy number gain | See cases [RCV000050685] | Chr17:78092236..83086677 [GRCh38] Chr17:76088317..81044553 [GRCh37] Chr17:73599912..78637842 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 | copy number gain | See cases [RCV000052486] | Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 | copy number gain | See cases [RCV000052497] | Chr17:78918650..83021095 [GRCh38] Chr17:76914732..80978971 [GRCh37] Chr17:74426327..78572260 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] | Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|See cases [RCV000053454] | Chr17:80328106..83086677 [GRCh38] Chr17:78301906..81044553 [GRCh37] Chr17:75916501..78637842 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3 | copy number gain | See cases [RCV000054050] | Chr17:82078456..82568008 [GRCh38] Chr17:80036332..80525884 [GRCh37] Chr17:77629621..78119173 [NCBI36] Chr17:17q25.3 |
uncertain significance |
GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1 | copy number loss | See cases [RCV000137356] | Chr17:82072338..83102552 [GRCh38] Chr17:80030214..81048189 [GRCh37] Chr17:77623503..78653717 [NCBI36] Chr17:17q25.3 |
likely pathogenic |
GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 | copy number gain | See cases [RCV000138688] | Chr17:81008196..83102584 [GRCh38] Chr17:78981996..81048189 [GRCh37] Chr17:76596591..78653749 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 | copy number loss | See cases [RCV000142007] | Chr17:81401966..83084062 [GRCh38] Chr17:79375766..81041938 [GRCh37] Chr17:76990361..78635227 [NCBI36] Chr17:17q25.3 |
likely pathogenic |
GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3 | copy number gain | See cases [RCV000141856] | Chr17:82326074..82856150 [GRCh38] Chr17:80283950..80814026 [GRCh37] Chr17:77877239..78407315 [NCBI36] Chr17:17q25.3 |
uncertain significance |
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 | copy number gain | See cases [RCV000143342] | Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh37/hg19 17q25.3(chr17:80306702-80481025)x3 | copy number gain | not provided [RCV000584972] | Chr17:80306702..80481025 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.372_373dup (p.Met125fs) | duplication | not provided [RCV000585489] | Chr17:82444516..82444517 [GRCh38] Chr17:80402392..80402393 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1 | copy number loss | See cases [RCV000449416] | Chr17:78514452..81041938 [GRCh37] Chr17:17q25.3 |
pathogenic |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 | copy number gain | See cases [RCV000447539] | Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 | copy number gain | See cases [RCV000447577] | Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 | copy number gain | See cases [RCV000447823] | Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 | copy number gain | See cases [RCV000510919] | Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 | copy number gain | See cases [RCV000512573] | Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 | copy number gain | not provided [RCV000683952] | Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 | copy number gain | not provided [RCV000683965] | Chr17:76552611..81041938 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q25.3(chr17:80373453-80401903)x1 | copy number loss | not provided [RCV000739709] | Chr17:80373453..80401903 [GRCh37] Chr17:17q25.3 |
benign |
GRCh37/hg19 17q25.3(chr17:80391684-80401903)x1 | copy number loss | not provided [RCV000739710] | Chr17:80391684..80401903 [GRCh37] Chr17:17q25.3 |
benign |
GRCh37/hg19 17q25.3(chr17:80391684-80419724)x3 | copy number gain | not provided [RCV000739711] | Chr17:80391684..80419724 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.*230G>A | single nucleotide variant | not provided [RCV001645705] | Chr17:82443774 [GRCh38] Chr17:80401650 [GRCh37] Chr17:17q25.3 |
benign |
GRCh37/hg19 17q25.3(chr17:79828248-81057996)x1 | copy number loss | not provided [RCV000752233] | Chr17:79828248..81057996 [GRCh37] Chr17:17q25.3 |
pathogenic |
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 | copy number gain | not provided [RCV000849900] | Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 | copy number gain | not provided [RCV000848418] | Chr17:78608912..81041938 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_001033046.4(CYBC1):c.127G>A (p.Asp43Asn) | single nucleotide variant | Granulomatous disease, chronic, autosomal recessive, 5 [RCV001200059]|not provided [RCV002240826] | Chr17:82447580 [GRCh38] Chr17:80405456 [GRCh37] Chr17:17q25.3 |
pathogenic|uncertain significance |
NM_001033046.4(CYBC1):c.86-55A>G | single nucleotide variant | not provided [RCV001598444]|not specified [RCV003487503] | Chr17:82447676 [GRCh38] Chr17:80405552 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.202-115G>A | single nucleotide variant | not provided [RCV001621780] | Chr17:82446075 [GRCh38] Chr17:80403951 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.503G>C (p.Ser168Thr) | single nucleotide variant | not provided [RCV002681174] | Chr17:82444065 [GRCh38] Chr17:80401941 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.444-41C>T | single nucleotide variant | not provided [RCV001649365] | Chr17:82444165 [GRCh38] Chr17:80402041 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.202-58C>T | single nucleotide variant | not provided [RCV001713418]|not specified [RCV003487751] | Chr17:82446018 [GRCh38] Chr17:80403894 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.444-154G>T | single nucleotide variant | not provided [RCV001638966] | Chr17:82444278 [GRCh38] Chr17:80402154 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.128-150G>T | single nucleotide variant | not provided [RCV001595778] | Chr17:82446846 [GRCh38] Chr17:80404722 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.444-45A>G | single nucleotide variant | not provided [RCV001693370]|not specified [RCV003487713] | Chr17:82444169 [GRCh38] Chr17:80402045 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.6C>G (p.Tyr2Ter) | single nucleotide variant | Granulomatous disease, chronic, autosomal recessive, 5 [RCV001200060] | Chr17:82449249 [GRCh38] Chr17:80407125 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_001033046.4(CYBC1):c.299-23G>A | single nucleotide variant | not provided [RCV001663081] | Chr17:82444614 [GRCh38] Chr17:80402490 [GRCh37] Chr17:17q25.3 |
benign |
NC_000017.10:g.(?_80401880)_(80407130_?)dup | duplication | not provided [RCV001370464] | Chr17:80401880..80407130 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.64C>T (p.Arg22Trp) | single nucleotide variant | not provided [RCV001321648] | Chr17:82449191 [GRCh38] Chr17:80407067 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.201+20G>A | single nucleotide variant | not provided [RCV001313627] | Chr17:82446603 [GRCh38] Chr17:80404479 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_001033046.4(CYBC1):c.291C>T (p.His97=) | single nucleotide variant | not provided [RCV001515258] | Chr17:82445871 [GRCh38] Chr17:80403747 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.498T>C (p.Leu166=) | single nucleotide variant | not provided [RCV001517314]|not specified [RCV003487365] | Chr17:82444070 [GRCh38] Chr17:80401946 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.201+173C>A | single nucleotide variant | not provided [RCV001669925] | Chr17:82446450 [GRCh38] Chr17:80404326 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.443+27C>T | single nucleotide variant | not provided [RCV001670183]|not specified [RCV003487656] | Chr17:82444420 [GRCh38] Chr17:80402296 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.201+19C>T | single nucleotide variant | not provided [RCV001519040] | Chr17:82446604 [GRCh38] Chr17:80404480 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.154G>A (p.Val52Ile) | single nucleotide variant | not provided [RCV001517018] | Chr17:82446670 [GRCh38] Chr17:80404546 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.213C>T (p.Phe71=) | single nucleotide variant | not provided [RCV001453145] | Chr17:82445949 [GRCh38] Chr17:80403825 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.444-19C>T | single nucleotide variant | not provided [RCV001434379] | Chr17:82444143 [GRCh38] Chr17:80402019 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.145C>T (p.Leu49Phe) | single nucleotide variant | not provided [RCV001521794] | Chr17:82446679 [GRCh38] Chr17:80404555 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.184A>G (p.Asn62Asp) | single nucleotide variant | not provided [RCV001400633] | Chr17:82446640 [GRCh38] Chr17:80404516 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.469A>G (p.Ile157Val) | single nucleotide variant | not provided [RCV001488869] | Chr17:82444099 [GRCh38] Chr17:80401975 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.440G>A (p.Arg147His) | single nucleotide variant | not provided [RCV002237638] | Chr17:82444450 [GRCh38] Chr17:80402326 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.392C>T (p.Ala131Val) | single nucleotide variant | not provided [RCV002237643] | Chr17:82444498 [GRCh38] Chr17:80402374 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.250A>G (p.Ser84Gly) | single nucleotide variant | not provided [RCV002237651] | Chr17:82445912 [GRCh38] Chr17:80403788 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.124G>A (p.Gly42Arg) | single nucleotide variant | not provided [RCV002237661] | Chr17:82447583 [GRCh38] Chr17:80405459 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.123C>T (p.Ser41=) | single nucleotide variant | not provided [RCV002237662] | Chr17:82447584 [GRCh38] Chr17:80405460 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.86-20C>T | single nucleotide variant | not provided [RCV002237665] | Chr17:82447641 [GRCh38] Chr17:80405517 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_001033046.4(CYBC1):c.444-18G>A | single nucleotide variant | not provided [RCV002239943] | Chr17:82444142 [GRCh38] Chr17:80402018 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.444-20_444-19delinsTA | indel | not provided [RCV002239944] | Chr17:82444143..82444144 [GRCh38] Chr17:80402019..80402020 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.299-13C>T | single nucleotide variant | not provided [RCV002239945] | Chr17:82444604 [GRCh38] Chr17:80402480 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.299-13C>G | single nucleotide variant | not provided [RCV002239946] | Chr17:82444604 [GRCh38] Chr17:80402480 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.298+15_298+23del | deletion | not provided [RCV002239947] | Chr17:82445841..82445849 [GRCh38] Chr17:80403717..80403725 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.298+15G>C | single nucleotide variant | not provided [RCV002239948] | Chr17:82445849 [GRCh38] Chr17:80403725 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.292G>A (p.Asp98Asn) | single nucleotide variant | not provided [RCV002239949] | Chr17:82445870 [GRCh38] Chr17:80403746 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.127+14C>T | single nucleotide variant | not provided [RCV002239951] | Chr17:82447566 [GRCh38] Chr17:80405442 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.127+13C>A | single nucleotide variant | not provided [RCV002239952] | Chr17:82447567 [GRCh38] Chr17:80405443 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.127+12C>T | single nucleotide variant | not provided [RCV002239953] | Chr17:82447568 [GRCh38] Chr17:80405444 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.464A>G (p.Lys155Arg) | single nucleotide variant | not provided [RCV002237634] | Chr17:82444104 [GRCh38] Chr17:80401980 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.340G>A (p.Glu114Lys) | single nucleotide variant | not provided [RCV002237647] | Chr17:82444550 [GRCh38] Chr17:80402426 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.245C>T (p.Thr82Met) | single nucleotide variant | not provided [RCV002237652] | Chr17:82445917 [GRCh38] Chr17:80403793 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.201+14G>A | single nucleotide variant | not provided [RCV002237655] | Chr17:82446609 [GRCh38] Chr17:80404485 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.201+13C>G | single nucleotide variant | not provided [RCV002237656] | Chr17:82446610 [GRCh38] Chr17:80404486 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.181C>A (p.Gln61Lys) | single nucleotide variant | not provided [RCV002237658] | Chr17:82446643 [GRCh38] Chr17:80404519 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.86-10C>G | single nucleotide variant | not provided [RCV002237664] | Chr17:82447631 [GRCh38] Chr17:80405507 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.3G>A (p.Met1Ile) | single nucleotide variant | not provided [RCV002237669] | Chr17:82449252 [GRCh38] Chr17:80407128 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.3(chr17:79976464-81041938) | copy number loss | not specified [RCV002052608] | Chr17:79976464..81041938 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.3(chr17:80396464-80698039)x3 | copy number gain | not provided [RCV001834165] | Chr17:80396464..80698039 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.352C>T (p.Arg118Trp) | single nucleotide variant | not provided [RCV002237646] | Chr17:82444538 [GRCh38] Chr17:80402414 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.201+9G>A | single nucleotide variant | not provided [RCV002237657] | Chr17:82446614 [GRCh38] Chr17:80404490 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.85+14C>T | single nucleotide variant | not provided [RCV002237666] | Chr17:82449156 [GRCh38] Chr17:80407032 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.456C>T (p.Ala152=) | single nucleotide variant | not provided [RCV002237636] | Chr17:82444112 [GRCh38] Chr17:80401988 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.422G>A (p.Ser141Asn) | single nucleotide variant | not provided [RCV002237639] | Chr17:82444468 [GRCh38] Chr17:80402344 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.412C>G (p.Leu138Val) | single nucleotide variant | not provided [RCV002237641] | Chr17:82444478 [GRCh38] Chr17:80402354 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.35G>A (p.Arg12His) | single nucleotide variant | not provided [RCV002237668] | Chr17:82449220 [GRCh38] Chr17:80407096 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.541G>A (p.Gly181Ser) | single nucleotide variant | not provided [RCV002237630] | Chr17:82444027 [GRCh38] Chr17:80401903 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.509C>T (p.Thr170Ile) | single nucleotide variant | not provided [RCV002237633] | Chr17:82444059 [GRCh38] Chr17:80401935 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.459C>T (p.Ile153=) | single nucleotide variant | not provided [RCV002237635] | Chr17:82444109 [GRCh38] Chr17:80401985 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.384C>T (p.Leu128=) | single nucleotide variant | not provided [RCV002237644] | Chr17:82444506 [GRCh38] Chr17:80402382 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.299-5C>T | single nucleotide variant | not provided [RCV002237648] | Chr17:82444596 [GRCh38] Chr17:80402472 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.289C>T (p.His97Tyr) | single nucleotide variant | not provided [RCV002237649] | Chr17:82445873 [GRCh38] Chr17:80403749 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.241A>G (p.Lys81Glu) | single nucleotide variant | not provided [RCV002237653] | Chr17:82445921 [GRCh38] Chr17:80403797 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.127+16C>T | single nucleotide variant | not provided [RCV002237660] | Chr17:82447564 [GRCh38] Chr17:80405440 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.66G>A (p.Arg22=) | single nucleotide variant | not provided [RCV002237667] | Chr17:82449189 [GRCh38] Chr17:80407065 [GRCh37] Chr17:17q25.3 |
likely benign |
NC_000017.10:g.(?_79477716)_(80900339_?)dup | duplication | not provided [RCV003122586] | Chr17:79477716..80900339 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_80401880)_(80407130_?)del | deletion | not provided [RCV003122334] | Chr17:80401880..80407130 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_80401880)_(80404592_?)del | deletion | not provided [RCV003122335] | Chr17:80401880..80404592 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_80403720)_(80407130_?)dup | duplication | not provided [RCV003122336] | Chr17:80403720..80407130 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_80332201)_(80758892_?)dup | duplication | not provided [RCV003122337] | Chr17:80332201..80758892 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.529G>A (p.Asp177Asn) | single nucleotide variant | not provided [RCV002237632] | Chr17:82444039 [GRCh38] Chr17:80401915 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.360C>T (p.Phe120=) | single nucleotide variant | not provided [RCV002237645] | Chr17:82444530 [GRCh38] Chr17:80402406 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.201+20G>C | single nucleotide variant | not provided [RCV002237654] | Chr17:82446603 [GRCh38] Chr17:80404479 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.562T>G (p.Ter188Gly) | single nucleotide variant | not provided [RCV002237629] | Chr17:82444006 [GRCh38] Chr17:80401882 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.443+15C>T | single nucleotide variant | not provided [RCV002237637] | Chr17:82444432 [GRCh38] Chr17:80402308 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.395C>T (p.Thr132Met) | single nucleotide variant | not provided [RCV002237642] | Chr17:82444495 [GRCh38] Chr17:80402371 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.271A>G (p.Thr91Ala) | single nucleotide variant | not provided [RCV002237650] | Chr17:82445891 [GRCh38] Chr17:80403767 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.153C>T (p.Tyr51=) | single nucleotide variant | not provided [RCV002237659] | Chr17:82446671 [GRCh38] Chr17:80404547 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.102C>A (p.Gly34=) | single nucleotide variant | not provided [RCV002237663] | Chr17:82447605 [GRCh38] Chr17:80405481 [GRCh37] Chr17:17q25.3 |
likely benign |
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 | copy number gain | not provided [RCV002276051] | Chr17:73481509..81043199 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_001033046.4(CYBC1):c.231G>A (p.Lys77=) | single nucleotide variant | not provided [RCV002771518] | Chr17:82445931 [GRCh38] Chr17:80403807 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.522G>A (p.Gln174=) | single nucleotide variant | not provided [RCV002866031] | Chr17:82444046 [GRCh38] Chr17:80401922 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.201+17T>C | single nucleotide variant | not provided [RCV003017673] | Chr17:82446606 [GRCh38] Chr17:80404482 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.10C>T (p.Gln4Ter) | single nucleotide variant | not provided [RCV002881442] | Chr17:82449245 [GRCh38] Chr17:80407121 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_001033046.4(CYBC1):c.302T>C (p.Val101Ala) | single nucleotide variant | not provided [RCV002755172] | Chr17:82444588 [GRCh38] Chr17:80402464 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.134T>C (p.Leu45Pro) | single nucleotide variant | not provided [RCV002685960] | Chr17:82446690 [GRCh38] Chr17:80404566 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.21C>G (p.Thr7=) | single nucleotide variant | not provided [RCV002685792] | Chr17:82449234 [GRCh38] Chr17:80407110 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.68C>T (p.Ser23Phe) | single nucleotide variant | not provided [RCV003014243] | Chr17:82449187 [GRCh38] Chr17:80407063 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.258C>T (p.Tyr86=) | single nucleotide variant | not provided [RCV002858207] | Chr17:82445904 [GRCh38] Chr17:80403780 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.298+7C>A | single nucleotide variant | not provided [RCV002867597] | Chr17:82445857 [GRCh38] Chr17:80403733 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.95C>T (p.Ser32Leu) | single nucleotide variant | not provided [RCV002797025] | Chr17:82447612 [GRCh38] Chr17:80405488 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.201+1G>A | single nucleotide variant | not provided [RCV002591857] | Chr17:82446622 [GRCh38] Chr17:80404498 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_001033046.4(CYBC1):c.298+18T>G | single nucleotide variant | not provided [RCV002976712] | Chr17:82445846 [GRCh38] Chr17:80403722 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.294C>T (p.Asp98=) | single nucleotide variant | not provided [RCV002695670] | Chr17:82445868 [GRCh38] Chr17:80403744 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.433G>C (p.Gly145Arg) | single nucleotide variant | not provided [RCV002591272] | Chr17:82444457 [GRCh38] Chr17:80402333 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.490C>T (p.His164Tyr) | single nucleotide variant | not provided [RCV002662350] | Chr17:82444078 [GRCh38] Chr17:80401954 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.201+16G>T | single nucleotide variant | not provided [RCV002949067] | Chr17:82446607 [GRCh38] Chr17:80404483 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.29G>C (p.Ser10Thr) | single nucleotide variant | not provided [RCV003038448] | Chr17:82449226 [GRCh38] Chr17:80407102 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.201+8C>T | single nucleotide variant | not provided [RCV002621704] | Chr17:82446615 [GRCh38] Chr17:80404491 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.418C>A (p.Gln140Lys) | single nucleotide variant | not provided [RCV003024823] | Chr17:82444472 [GRCh38] Chr17:80402348 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.500A>C (p.Glu167Ala) | single nucleotide variant | not provided [RCV002953986] | Chr17:82444068 [GRCh38] Chr17:80401944 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.298+17G>A | single nucleotide variant | not provided [RCV002594620] | Chr17:82445847 [GRCh38] Chr17:80403723 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.327T>C (p.Asp109=) | single nucleotide variant | not provided [RCV002624307] | Chr17:82444563 [GRCh38] Chr17:80402439 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.415A>G (p.Thr139Ala) | single nucleotide variant | not provided [RCV002642635] | Chr17:82444475 [GRCh38] Chr17:80402351 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.144G>C (p.Lys48Asn) | single nucleotide variant | not provided [RCV003025565] | Chr17:82446680 [GRCh38] Chr17:80404556 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.319G>A (p.Val107Ile) | single nucleotide variant | not provided [RCV002800629] | Chr17:82444571 [GRCh38] Chr17:80402447 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.494G>T (p.Cys165Phe) | single nucleotide variant | not provided [RCV002711965] | Chr17:82444074 [GRCh38] Chr17:80401950 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.214G>A (p.Asp72Asn) | single nucleotide variant | not provided [RCV002602433] | Chr17:82445948 [GRCh38] Chr17:80403824 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.195C>T (p.Asp65=) | single nucleotide variant | not provided [RCV002942046] | Chr17:82446629 [GRCh38] Chr17:80404505 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.411C>A (p.Pro137=) | single nucleotide variant | not provided [RCV002877033] | Chr17:82444479 [GRCh38] Chr17:80402355 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.127+12C>G | single nucleotide variant | not provided [RCV003044116] | Chr17:82447568 [GRCh38] Chr17:80405444 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.357C>T (p.Tyr119=) | single nucleotide variant | not provided [RCV003027144] | Chr17:82444533 [GRCh38] Chr17:80402409 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.396G>A (p.Thr132=) | single nucleotide variant | not provided [RCV002717080] | Chr17:82444494 [GRCh38] Chr17:80402370 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.161G>A (p.Gly54Asp) | single nucleotide variant | not provided [RCV002937390] | Chr17:82446663 [GRCh38] Chr17:80404539 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.299-3C>T | single nucleotide variant | not provided [RCV003047853] | Chr17:82444594 [GRCh38] Chr17:80402470 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.202-12G>A | single nucleotide variant | not provided [RCV003009519] | Chr17:82445972 [GRCh38] Chr17:80403848 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.417G>A (p.Thr139=) | single nucleotide variant | not provided [RCV002604889] | Chr17:82444473 [GRCh38] Chr17:80402349 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.128-20C>T | single nucleotide variant | not provided [RCV002605606] | Chr17:82446716 [GRCh38] Chr17:80404592 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.385C>T (p.Arg129Trp) | single nucleotide variant | not provided [RCV003068485] | Chr17:82444505 [GRCh38] Chr17:80402381 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.439C>T (p.Arg147Cys) | single nucleotide variant | not provided [RCV002635587] | Chr17:82444451 [GRCh38] Chr17:80402327 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.376G>A (p.Val126Met) | single nucleotide variant | not provided [RCV003051982] | Chr17:82444514 [GRCh38] Chr17:80402390 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.355T>G (p.Tyr119Asp) | single nucleotide variant | not provided [RCV002726132] | Chr17:82444535 [GRCh38] Chr17:80402411 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.143A>C (p.Lys48Thr) | single nucleotide variant | not provided [RCV002585119] | Chr17:82446681 [GRCh38] Chr17:80404557 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.65G>A (p.Arg22Gln) | single nucleotide variant | not provided [RCV002607597] | Chr17:82449190 [GRCh38] Chr17:80407066 [GRCh37] Chr17:17q25.3 |
uncertain significance |
Single allele | deletion | See cases [RCV003154621] | Chr17:79539041..81052322 [GRCh37] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:82004063-83087346) | copy number loss | Anomalous pulmonary venous return [RCV003223589] | Chr17:82004063..83087346 [GRCh38] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.127+14dup | duplication | not provided [RCV003571417] | Chr17:82447565..82447566 [GRCh38] Chr17:80405441..80405442 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.249C>T (p.Phe83=) | single nucleotide variant | not provided [RCV003875488] | Chr17:82445913 [GRCh38] Chr17:80403789 [GRCh37] Chr17:17q25.3 |
likely benign |
Single allele | duplication | not provided [RCV003448687] | Chr17:79928042..81152120 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.298+8G>A | single nucleotide variant | not provided [RCV003413398] | Chr17:82445856 [GRCh38] Chr17:80403732 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001033046.4(CYBC1):c.76C>T (p.Leu26=) | single nucleotide variant | not provided [RCV003830728] | Chr17:82449179 [GRCh38] Chr17:80407055 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.221G>A (p.Ser74Asn) | single nucleotide variant | not provided [RCV003828172] | Chr17:82445941 [GRCh38] Chr17:80403817 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.128-19G>C | single nucleotide variant | not provided [RCV003661407] | Chr17:82446715 [GRCh38] Chr17:80404591 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.202-14A>C | single nucleotide variant | not provided [RCV003830155] | Chr17:82445974 [GRCh38] Chr17:80403850 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.318T>C (p.Asp106=) | single nucleotide variant | not provided [RCV003576267] | Chr17:82444572 [GRCh38] Chr17:80402448 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.299-12G>A | single nucleotide variant | not provided [RCV003828372] | Chr17:82444603 [GRCh38] Chr17:80402479 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.516G>C (p.Leu172=) | single nucleotide variant | not provided [RCV003876260] | Chr17:82444052 [GRCh38] Chr17:80401928 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.201+13C>T | single nucleotide variant | not provided [RCV003834935] | Chr17:82446610 [GRCh38] Chr17:80404486 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.298+11G>A | single nucleotide variant | not provided [RCV003833331] | Chr17:82445853 [GRCh38] Chr17:80403729 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.128-18C>T | single nucleotide variant | not provided [RCV003700066] | Chr17:82446714 [GRCh38] Chr17:80404590 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.246G>A (p.Thr82=) | single nucleotide variant | not provided [RCV003850198] | Chr17:82445916 [GRCh38] Chr17:80403792 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.273del (p.Leu92fs) | deletion | not provided [RCV003673787] | Chr17:82445889 [GRCh38] Chr17:80403765 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_001033046.4(CYBC1):c.202-2A>C | single nucleotide variant | not provided [RCV003666555] | Chr17:82445962 [GRCh38] Chr17:80403838 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_001033046.4(CYBC1):c.202-13T>C | single nucleotide variant | not provided [RCV003701899] | Chr17:82445973 [GRCh38] Chr17:80403849 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.127+9C>T | single nucleotide variant | not provided [RCV003723567] | Chr17:82447571 [GRCh38] Chr17:80405447 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.330G>C (p.Val110=) | single nucleotide variant | not provided [RCV003698648] | Chr17:82444560 [GRCh38] Chr17:80402436 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.201+14G>T | single nucleotide variant | not provided [RCV003711965] | Chr17:82446609 [GRCh38] Chr17:80404485 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.342G>A (p.Glu114=) | single nucleotide variant | not provided [RCV003856939] | Chr17:82444548 [GRCh38] Chr17:80402424 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.127+15G>T | single nucleotide variant | not provided [RCV003682263] | Chr17:82447565 [GRCh38] Chr17:80405441 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.267G>A (p.Leu89=) | single nucleotide variant | not provided [RCV003824329] | Chr17:82445895 [GRCh38] Chr17:80403771 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.513G>A (p.Glu171=) | single nucleotide variant | not provided [RCV003703852] | Chr17:82444055 [GRCh38] Chr17:80401931 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.276T>C (p.Leu92=) | single nucleotide variant | not provided [RCV003680318] | Chr17:82445886 [GRCh38] Chr17:80403762 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.465G>A (p.Lys155=) | single nucleotide variant | not provided [RCV003722931] | Chr17:82444103 [GRCh38] Chr17:80401979 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.528C>T (p.Ser176=) | single nucleotide variant | not provided [RCV003732326] | Chr17:82444040 [GRCh38] Chr17:80401916 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.298+7C>T | single nucleotide variant | not provided [RCV003679940] | Chr17:82445857 [GRCh38] Chr17:80403733 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.363del (p.Gly123fs) | deletion | not provided [RCV003567161] | Chr17:82444527 [GRCh38] Chr17:80402403 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.224C>T (p.Thr75Ile) | single nucleotide variant | not provided [RCV003682559] | Chr17:82445938 [GRCh38] Chr17:80403814 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.86-4A>G | single nucleotide variant | not provided [RCV003841937] | Chr17:82447625 [GRCh38] Chr17:80405501 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.444-12G>A | single nucleotide variant | not provided [RCV003818479] | Chr17:82444136 [GRCh38] Chr17:80402012 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.540C>T (p.Ala180=) | single nucleotide variant | not provided [RCV002237631] | Chr17:82444028 [GRCh38] Chr17:80401904 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_001033046.4(CYBC1):c.416C>T (p.Thr139Met) | single nucleotide variant | not provided [RCV002237640] | Chr17:82444474 [GRCh38] Chr17:80402350 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.444-1G>C | single nucleotide variant | not provided [RCV002239941] | Chr17:82444125 [GRCh38] Chr17:80402001 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_001033046.4(CYBC1):c.444-6G>A | single nucleotide variant | not provided [RCV002239942] | Chr17:82444130 [GRCh38] Chr17:80402006 [GRCh37] Chr17:17q25.3 |
benign |
NM_001033046.4(CYBC1):c.127+14del | deletion | not provided [RCV002239950] | Chr17:82447566 [GRCh38] Chr17:80405442 [GRCh37] Chr17:17q25.3 |
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. |
RH101958 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G06994 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D8S2278 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D11S3114 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
L18426 |
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||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D8S2279 |
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||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH70292 |
|
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 | 2413 | 2556 | 1635 | 540 | 1932 | 382 | 3636 | 1181 | 3418 | 330 | 1444 | 1605 | 174 | 1 | 1204 | 2076 | 5 | 2 |
Low | 26 | 435 | 91 | 84 | 19 | 83 | 721 | 1016 | 316 | 89 | 16 | 8 | 1 | 712 | 1 | |||
Below cutoff |
RefSeq Transcripts | NM_001033046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001100407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001100408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193653 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193654 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_036514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_036516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_036517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_036518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_036519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006722293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011523606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047436741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047436742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC132938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF269290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK054876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK056342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK090484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK092865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225389 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AU280357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC003595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG338078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG716477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM147030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM801484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU734211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX451530 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN260096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA008508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA342707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA436899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA453235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA500882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA663677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA716299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA969007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB113745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000306645 ⟹ ENSP00000307765 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000342572 ⟹ ENSP00000342228 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000434650 ⟹ ENSP00000401626 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000437807 ⟹ ENSP00000388909 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000536759 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000577436 ⟹ ENSP00000464633 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000577471 ⟹ ENSP00000463475 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000577696 ⟹ ENSP00000463215 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000577707 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000577732 ⟹ ENSP00000463228 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000577834 ⟹ ENSP00000464442 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000577888 ⟹ ENSP00000462410 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000578064 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000578895 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000578913 ⟹ ENSP00000464201 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000578919 ⟹ ENSP00000464080 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000578941 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000579444 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000579751 ⟹ ENSP00000462956 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000580560 ⟹ ENSP00000489494 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000581196 ⟹ ENSP00000489034 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000582395 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000582438 ⟹ ENSP00000463840 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000582456 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000582545 ⟹ ENSP00000464531 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000582608 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000582725 ⟹ ENSP00000463306 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000583242 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000583359 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000583617 ⟹ ENSP00000462515 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000583778 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000584024 ⟹ ENSP00000462346 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000584408 ⟹ ENSP00000462997 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000584503 ⟹ ENSP00000488983 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000584791 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000584891 ⟹ ENSP00000489093 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000585044 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000585064 ⟹ ENSP00000463846 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000585080 ⟹ ENSP00000462529 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000585115 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698818 ⟹ ENSP00000513954 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698819 ⟹ ENSP00000513955 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698820 ⟹ ENSP00000513956 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698821 ⟹ ENSP00000513958 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698822 ⟹ ENSP00000513959 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698823 ⟹ ENSP00000513960 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698824 ⟹ ENSP00000513961 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698825 ⟹ ENSP00000513962 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698826 ⟹ ENSP00000513963 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698827 ⟹ ENSP00000513964 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698828 ⟹ ENSP00000513965 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000698829 ⟹ ENSP00000513966 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001033046 ⟹ NP_001028218 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001100407 ⟹ NP_001093877 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001100408 ⟹ NP_001093878 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193653 ⟹ NP_001180582 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193654 ⟹ NP_001180583 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193655 ⟹ NP_001180584 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193657 ⟹ NP_001180586 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_036514 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_036516 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_036517 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_036518 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_036519 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011523606 ⟹ XP_011521908 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047436741 ⟹ XP_047292697 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047436742 ⟹ XP_047292698 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317205 ⟹ XP_054173180 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317206 ⟹ XP_054173181 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317207 ⟹ XP_054173182 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001028218 | (Get FASTA) | NCBI Sequence Viewer |
NP_001093877 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001093878 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180582 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180583 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180584 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180586 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011521908 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047292697 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047292698 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173180 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173181 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173182 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAG23173 | (Get FASTA) | NCBI Sequence Viewer |
AAH03595 | (Get FASTA) | NCBI Sequence Viewer | |
AAH04171 | (Get FASTA) | NCBI Sequence Viewer | |
BAB55335 | (Get FASTA) | NCBI Sequence Viewer | |
BAB70818 | (Get FASTA) | NCBI Sequence Viewer | |
BAB71156 | (Get FASTA) | NCBI Sequence Viewer | |
BAC03465 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89776 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89777 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89778 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89779 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89780 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89781 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89782 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89783 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89784 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89785 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89786 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89787 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89788 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89789 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89790 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000307765 | ||
ENSP00000307765.5 | |||
ENSP00000342228.8 | |||
ENSP00000388909 | |||
ENSP00000388909.2 | |||
ENSP00000401626 | |||
ENSP00000401626.2 | |||
ENSP00000462346.1 | |||
ENSP00000462410.1 | |||
ENSP00000462515.1 | |||
ENSP00000462529 | |||
ENSP00000462529.1 | |||
ENSP00000462956.2 | |||
ENSP00000462997.1 | |||
ENSP00000463215 | |||
ENSP00000463215.1 | |||
ENSP00000463215.2 | |||
ENSP00000463228 | |||
ENSP00000463228.1 | |||
ENSP00000463306.1 | |||
ENSP00000463475.1 | |||
ENSP00000463840.2 | |||
ENSP00000463846 | |||
ENSP00000463846.1 | |||
ENSP00000464080 | |||
ENSP00000464080.1 | |||
ENSP00000464201.1 | |||
ENSP00000464442.1 | |||
ENSP00000464531.2 | |||
ENSP00000464633.1 | |||
ENSP00000488983.1 | |||
ENSP00000489034.1 | |||
ENSP00000489093.1 | |||
ENSP00000489494.1 | |||
ENSP00000513954.1 | |||
ENSP00000513955.1 | |||
ENSP00000513956 | |||
ENSP00000513956.1 | |||
ENSP00000513957.1 | |||
ENSP00000513958.1 | |||
ENSP00000513959.1 | |||
ENSP00000513960.1 | |||
ENSP00000513961.1 | |||
ENSP00000513962.1 | |||
ENSP00000513963.1 | |||
ENSP00000513964.1 | |||
ENSP00000513965.1 | |||
ENSP00000513966.1 | |||
GenBank Protein | Q9BQA9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001093877 ⟸ NM_001100407 |
- Peptide Label: | isoform a |
- UniProtKB: | E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot), Q9BQA9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001093878 ⟸ NM_001100408 |
- Peptide Label: | isoform b |
- UniProtKB: | Q9BQA9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001028218 ⟸ NM_001033046 |
- Peptide Label: | isoform a |
- UniProtKB: | E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot), Q9BQA9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001180582 ⟸ NM_001193653 |
- Peptide Label: | isoform a |
- UniProtKB: | E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot), Q9BQA9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001180583 ⟸ NM_001193654 |
- Peptide Label: | isoform a |
- UniProtKB: | E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot), Q9BQA9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001180586 ⟸ NM_001193657 |
- Peptide Label: | isoform a |
- UniProtKB: | E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot), Q9BQA9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001180584 ⟸ NM_001193655 |
- Peptide Label: | isoform a |
- UniProtKB: | E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot), Q9BQA9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011521908 ⟸ XM_011523606 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BQA9 (UniProtKB/Swiss-Prot), E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000388909 ⟸ ENST00000437807 |
RefSeq Acc Id: | ENSP00000489494 ⟸ ENST00000580560 |
RefSeq Acc Id: | ENSP00000307765 ⟸ ENST00000306645 |
RefSeq Acc Id: | ENSP00000489034 ⟸ ENST00000581196 |
RefSeq Acc Id: | ENSP00000463306 ⟸ ENST00000582725 |
RefSeq Acc Id: | ENSP00000464531 ⟸ ENST00000582545 |
RefSeq Acc Id: | ENSP00000463840 ⟸ ENST00000582438 |
RefSeq Acc Id: | ENSP00000462515 ⟸ ENST00000583617 |
RefSeq Acc Id: | ENSP00000488983 ⟸ ENST00000584503 |
RefSeq Acc Id: | ENSP00000462997 ⟸ ENST00000584408 |
RefSeq Acc Id: | ENSP00000489093 ⟸ ENST00000584891 |
RefSeq Acc Id: | ENSP00000462346 ⟸ ENST00000584024 |
RefSeq Acc Id: | ENSP00000463846 ⟸ ENST00000585064 |
RefSeq Acc Id: | ENSP00000462529 ⟸ ENST00000585080 |
RefSeq Acc Id: | ENSP00000463228 ⟸ ENST00000577732 |
RefSeq Acc Id: | ENSP00000464442 ⟸ ENST00000577834 |
RefSeq Acc Id: | ENSP00000463215 ⟸ ENST00000577696 |
RefSeq Acc Id: | ENSP00000464633 ⟸ ENST00000577436 |
RefSeq Acc Id: | ENSP00000463475 ⟸ ENST00000577471 |
RefSeq Acc Id: | ENSP00000462410 ⟸ ENST00000577888 |
RefSeq Acc Id: | ENSP00000464201 ⟸ ENST00000578913 |
RefSeq Acc Id: | ENSP00000464080 ⟸ ENST00000578919 |
RefSeq Acc Id: | ENSP00000462956 ⟸ ENST00000579751 |
RefSeq Acc Id: | ENSP00000401626 ⟸ ENST00000434650 |
RefSeq Acc Id: | ENSP00000342228 ⟸ ENST00000342572 |
RefSeq Acc Id: | XP_047292698 ⟸ XM_047436742 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047292697 ⟸ XM_047436741 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | ENSP00000513966 ⟸ ENST00000698829 |
RefSeq Acc Id: | ENSP00000513958 ⟸ ENST00000698821 |
RefSeq Acc Id: | ENSP00000513956 ⟸ ENST00000698820 |
RefSeq Acc Id: | ENSP00000513962 ⟸ ENST00000698825 |
RefSeq Acc Id: | ENSP00000513965 ⟸ ENST00000698828 |
RefSeq Acc Id: | ENSP00000513963 ⟸ ENST00000698826 |
RefSeq Acc Id: | ENSP00000513955 ⟸ ENST00000698819 |
RefSeq Acc Id: | ENSP00000513959 ⟸ ENST00000698822 |
RefSeq Acc Id: | ENSP00000513961 ⟸ ENST00000698824 |
RefSeq Acc Id: | ENSP00000513964 ⟸ ENST00000698827 |
RefSeq Acc Id: | ENSP00000513954 ⟸ ENST00000698818 |
RefSeq Acc Id: | ENSP00000513960 ⟸ ENST00000698823 |
RefSeq Acc Id: | XP_054173182 ⟸ XM_054317207 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054173181 ⟸ XM_054317206 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054173180 ⟸ XM_054317205 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BQA9 (UniProtKB/Swiss-Prot), E1B6X3 (UniProtKB/Swiss-Prot), Q96NR1 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BQA9-F1-model_v2 | AlphaFold | Q9BQA9 | 1-187 | view protein structure |
RGD ID: | 6793806 | ||||||||
Promoter ID: | HG_KWN:27437 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Lymphoblastoid | ||||||||
Transcripts: | UC002KEX.1 | ||||||||
Position: |
|
RGD ID: | 6793807 | ||||||||
Promoter ID: | HG_KWN:27438 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | UC002KEY.1 | ||||||||
Position: |
|
RGD ID: | 6793808 | ||||||||
Promoter ID: | HG_KWN:27439 | ||||||||
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 | ||||||||
Transcripts: | UC002KEZ.1 | ||||||||
Position: |
|
RGD ID: | 6794059 | ||||||||
Promoter ID: | HG_KWN:27440 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000342572, NM_001033046, NM_001100407, NM_001100408, UC002KFA.1, UC002KFD.2, UC002KFE.2, UC010DIS.1 | ||||||||
Position: |
|
RGD ID: | 7236757 | ||||||||
Promoter ID: | EPDNEW_H24124 | ||||||||
Type: | initiation region | ||||||||
Name: | C17orf62_1 | ||||||||
Description: | chromosome 17 open reading frame 62 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:28672 | AgrOrtholog |
COSMIC | CYBC1 | COSMIC |
Ensembl Genes | ENSG00000178927 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000306645 | ENTREZGENE |
ENST00000306645.10 | UniProtKB/Swiss-Prot | |
ENST00000342572 | ENTREZGENE | |
ENST00000342572.12 | UniProtKB/TrEMBL | |
ENST00000434650 | ENTREZGENE | |
ENST00000434650.6 | UniProtKB/Swiss-Prot | |
ENST00000437807 | ENTREZGENE | |
ENST00000437807.6 | UniProtKB/Swiss-Prot | |
ENST00000577436.5 | UniProtKB/Swiss-Prot | |
ENST00000577471.5 | UniProtKB/TrEMBL | |
ENST00000577696 | ENTREZGENE | |
ENST00000577696.5 | UniProtKB/TrEMBL | |
ENST00000577696.6 | UniProtKB/Swiss-Prot | |
ENST00000577732 | ENTREZGENE | |
ENST00000577732.5 | UniProtKB/Swiss-Prot | |
ENST00000577834.5 | UniProtKB/TrEMBL | |
ENST00000577888.5 | UniProtKB/TrEMBL | |
ENST00000578913.5 | UniProtKB/TrEMBL | |
ENST00000578919 | ENTREZGENE | |
ENST00000578919.6 | UniProtKB/Swiss-Prot | |
ENST00000579751.6 | UniProtKB/TrEMBL | |
ENST00000580560.5 | UniProtKB/TrEMBL | |
ENST00000581196 | ENTREZGENE | |
ENST00000581196.6 | UniProtKB/TrEMBL | |
ENST00000582438.2 | UniProtKB/TrEMBL | |
ENST00000582545.2 | UniProtKB/TrEMBL | |
ENST00000582725.6 | UniProtKB/TrEMBL | |
ENST00000583617.5 | UniProtKB/TrEMBL | |
ENST00000584024 | ENTREZGENE | |
ENST00000584024.5 | UniProtKB/TrEMBL | |
ENST00000584408 | ENTREZGENE | |
ENST00000584408.6 | UniProtKB/TrEMBL | |
ENST00000584503.5 | UniProtKB/TrEMBL | |
ENST00000584791 | ENTREZGENE | |
ENST00000584891.5 | UniProtKB/TrEMBL | |
ENST00000585064 | ENTREZGENE | |
ENST00000585064.5 | UniProtKB/Swiss-Prot | |
ENST00000585080 | ENTREZGENE | |
ENST00000585080.5 | UniProtKB/Swiss-Prot | |
ENST00000585115.2 | UniProtKB/Swiss-Prot | |
ENST00000698818.1 | UniProtKB/TrEMBL | |
ENST00000698819.1 | UniProtKB/Swiss-Prot | |
ENST00000698820 | ENTREZGENE | |
ENST00000698820.1 | UniProtKB/Swiss-Prot | |
ENST00000698821.1 | UniProtKB/TrEMBL | |
ENST00000698822.1 | UniProtKB/TrEMBL | |
ENST00000698823.1 | UniProtKB/TrEMBL | |
ENST00000698824.1 | UniProtKB/TrEMBL | |
ENST00000698825.1 | UniProtKB/TrEMBL | |
ENST00000698826.1 | UniProtKB/TrEMBL | |
ENST00000698827.1 | UniProtKB/TrEMBL | |
ENST00000698828.1 | UniProtKB/TrEMBL | |
ENST00000698829.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000178927 | GTEx |
HGNC ID | HGNC:28672 | ENTREZGENE |
Human Proteome Map | CYBC1 | Human Proteome Map |
InterPro | Cybc1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:79415 | UniProtKB/Swiss-Prot |
NCBI Gene | 79415 | ENTREZGENE |
OMIM | 618334 | OMIM |
PANTHER | CYTOCHROME B-245 CHAPERONE 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR31837 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DUF4564 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA142672245 | PharmGKB |
UniProt | A0A0U1RQN8_HUMAN | UniProtKB/TrEMBL |
A0A8V8TM96_HUMAN | UniProtKB/TrEMBL | |
A0A8V8TMA2_HUMAN | UniProtKB/TrEMBL | |
A0A8V8TMR4_HUMAN | UniProtKB/TrEMBL | |
A0A8V8TMR8_HUMAN | UniProtKB/TrEMBL | |
A0A8V8TNQ9_HUMAN | UniProtKB/TrEMBL | |
A0A8V8TNR4_HUMAN | UniProtKB/TrEMBL | |
A0A8V8TP26_HUMAN | UniProtKB/TrEMBL | |
A0A8V8TP29_HUMAN | UniProtKB/TrEMBL | |
CYBC1_HUMAN | UniProtKB/Swiss-Prot | |
E1B6X3 | ENTREZGENE | |
H0Y2X1_HUMAN | UniProtKB/TrEMBL | |
J3KS78_HUMAN | UniProtKB/TrEMBL | |
J3KSB6_HUMAN | UniProtKB/TrEMBL | |
J3KSJ5_HUMAN | UniProtKB/TrEMBL | |
J3KTF4_HUMAN | UniProtKB/TrEMBL | |
J3KTI1_HUMAN | UniProtKB/TrEMBL | |
J3QKS6_HUMAN | UniProtKB/TrEMBL | |
J3QKZ6_HUMAN | UniProtKB/TrEMBL | |
J3QLB7_HUMAN | UniProtKB/TrEMBL | |
J3QQQ4_HUMAN | UniProtKB/TrEMBL | |
J3QRG5_HUMAN | UniProtKB/TrEMBL | |
J3QRZ2_HUMAN | UniProtKB/TrEMBL | |
J3QS53_HUMAN | UniProtKB/TrEMBL | |
Q96NR1 | ENTREZGENE | |
Q9BQA9 | ENTREZGENE | |
UniProt Secondary | A0A024R8T7 | UniProtKB/TrEMBL |
E1B6X3 | UniProtKB/Swiss-Prot | |
Q96NR1 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2018-03-06 | CYBC1 | cytochrome b-245 chaperone 1 | C17orf62 | chromosome 17 open reading frame 62 | Symbol and/or name change | 5135510 | APPROVED |