Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CD96 | Human | multiple sclerosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31068361 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CD96 | Human | multiple sclerosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31068361 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:1313846 | PMID:9845376 | PMID:12477932 | PMID:15034010 | PMID:16344560 | PMID:17576927 | PMID:17847009 | PMID:19056733 | PMID:20237496 | PMID:20301533 | PMID:21685187 | PMID:21729528 |
PMID:21873635 | PMID:22879978 | PMID:23272144 | PMID:24751333 | PMID:26186194 | PMID:26642704 | PMID:27620276 | PMID:28514442 | PMID:28700943 | PMID:29531070 | PMID:30222899 | PMID:30411378 |
PMID:30528596 | PMID:30759143 | PMID:32043568 | PMID:32612110 | PMID:32917981 | PMID:33298247 | PMID:33961781 | PMID:35924575 | PMID:36004818 | PMID:36581470 | PMID:36674817 | PMID:36949573 |
PMID:37075705 | PMID:39159564 |
CD96 (Homo sapiens - human) |
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Cd96 (Mus musculus - house mouse) |
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Cd96 (Rattus norvegicus - Norway rat) |
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Cd96 (Chinchilla lanigera - long-tailed chinchilla) |
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CD96 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CD96 (Canis lupus familiaris - dog) |
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Cd96 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CD96 (Sus scrofa - pig) |
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CD96 (Chlorocebus sabaeus - green monkey) |
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Variants in CD96
178 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
46,XY t(3;18)(q13.13;q12.1) | translocation | C syndrome [RCV000004902] | Chr3:3q13.13 | pathogenic |
NM_005816.5(CD96):c.411_413delinsAAT (p.Thr138Ile) | indel | not provided [RCV000722961] | Chr3:111545395..111545397 [GRCh38] Chr3:111264242..111264244 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.791C>T (p.Thr264Met) | single nucleotide variant | C syndrome [RCV000004903] | Chr3:111585362 [GRCh38] Chr3:111304209 [GRCh37] Chr3:3q13.13 |
pathogenic |
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 | copy number loss | See cases [RCV000051543] | Chr3:93886671..123216683 [GRCh38] Chr3:93605515..122935530 [GRCh37] Chr3:95088205..124418220 [NCBI36] Chr3:3q11.1-21.1 |
pathogenic |
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 | copy number loss | See cases [RCV000051544] | Chr3:108242572..116169331 [GRCh38] Chr3:107961419..115888178 [GRCh37] Chr3:109444109..117370868 [NCBI36] Chr3:3q13.13-13.31 |
pathogenic |
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 | copy number gain | See cases [RCV000051722] | Chr3:104621220..116093884 [GRCh38] Chr3:104340064..115812731 [GRCh37] Chr3:105822754..117295421 [NCBI36] Chr3:3q13.11-13.31 |
pathogenic |
NM_198196.2(CD96):c.623C>T (p.Ser208Phe) | single nucleotide variant | Malignant melanoma [RCV000065768] | Chr3:111579058 [GRCh38] Chr3:111297905 [GRCh37] Chr3:112780595 [NCBI36] Chr3:3q13.13 |
not provided |
NM_198196.2(CD96):c.855G>A (p.Glu285=) | single nucleotide variant | Malignant melanoma [RCV000065769] | Chr3:111585378 [GRCh38] Chr3:111304225 [GRCh37] Chr3:112786915 [NCBI36] Chr3:3q13.13 |
not provided |
NM_198196.2(CD96):c.903C>T (p.Ile301=) | single nucleotide variant | Malignant melanoma [RCV000065770] | Chr3:111598167 [GRCh38] Chr3:111317014 [GRCh37] Chr3:112799704 [NCBI36] Chr3:3q13.13 |
not provided |
NM_198196.2(CD96):c.159C>T (p.Phe53=) | single nucleotide variant | Malignant melanoma [RCV000060658] | Chr3:111545143 [GRCh38] Chr3:111263990 [GRCh37] Chr3:112746680 [NCBI36] Chr3:3q13.13 |
not provided |
NM_198196.2(CD96):c.558G>A (p.Thr186=) | single nucleotide variant | Malignant melanoma [RCV000060659] | Chr3:111577516 [GRCh38] Chr3:111296363 [GRCh37] Chr3:112779053 [NCBI36] Chr3:3q13.13 |
not provided |
CD96:c.856-4386C>T | single nucleotide variant | Malignant melanoma [RCV000060660] | Chr3:111593734 [GRCh38] Chr3:111312581 [GRCh37] Chr3:112795271 [NCBI36] Chr3:3q13.13 |
not provided |
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 | copy number loss | See cases [RCV000135320] | Chr3:93819623..116887056 [GRCh38] Chr3:93538467..116605903 [GRCh37] Chr3:95021157..118088593 [NCBI36] Chr3:3q11.1-13.31 |
pathogenic |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 | copy number gain | See cases [RCV000134948] | Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 | copy number loss | See cases [RCV000138186] | Chr3:97795369..115663349 [GRCh38] Chr3:97514213..115382196 [GRCh37] Chr3:98996903..116864886 [NCBI36] Chr3:3q11.2-13.31 |
pathogenic|uncertain significance |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 | copy number gain | See cases [RCV000142340] | Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
NM_005816.5(CD96):c.*820A>G | single nucleotide variant | C syndrome [RCV000265044] | Chr3:111650626 [GRCh38] Chr3:111369473 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.*2064C>T | single nucleotide variant | C syndrome [RCV000259685] | Chr3:111651870 [GRCh38] Chr3:111370717 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*1815G>T | single nucleotide variant | C syndrome [RCV000262861] | Chr3:111651621 [GRCh38] Chr3:111370468 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1166G>A (p.Ser389Asn) | single nucleotide variant | CD96-related disorder [RCV003943673]|not provided [RCV002975850]|not specified [RCV004065027] | Chr3:111606778 [GRCh38] Chr3:111325625 [GRCh37] Chr3:3q13.2 |
likely benign|uncertain significance |
NM_005816.5(CD96):c.578A>C (p.Gln193Pro) | single nucleotide variant | not provided [RCV000885142] | Chr3:111579061 [GRCh38] Chr3:111297908 [GRCh37] Chr3:3q13.13 |
benign|likely benign |
NM_005816.5(CD96):c.419-13T>C | single nucleotide variant | C syndrome [RCV000279947] | Chr3:111567510 [GRCh38] Chr3:111286357 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.*713C>T | single nucleotide variant | C syndrome [RCV000268585] | Chr3:111650519 [GRCh38] Chr3:111369366 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.177C>A (p.Ser59=) | single nucleotide variant | not provided [RCV000953517] | Chr3:111545161 [GRCh38] Chr3:111264008 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.*1801G>A | single nucleotide variant | C syndrome [RCV000266481] | Chr3:111651607 [GRCh38] Chr3:111370454 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*531A>G | single nucleotide variant | C syndrome [RCV000272256] | Chr3:111650337 [GRCh38] Chr3:111369184 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.966A>G (p.Thr322=) | single nucleotide variant | not provided [RCV002195139] | Chr3:111600793 [GRCh38] Chr3:111319640 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.1622T>G (p.Phe541Cys) | single nucleotide variant | C syndrome [RCV000396888] | Chr3:111649718 [GRCh38] Chr3:111368565 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.680G>A (p.Arg227Gln) | single nucleotide variant | not provided [RCV000921031] | Chr3:111579163 [GRCh38] Chr3:111298010 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.181G>A (p.Val61Ile) | single nucleotide variant | not provided [RCV002032119] | Chr3:111545165 [GRCh38] Chr3:111264012 [GRCh37] Chr3:3q13.13 |
likely benign|uncertain significance |
NM_005816.5(CD96):c.544-1485G>A | single nucleotide variant | not specified [RCV004217766] | Chr3:111577542 [GRCh38] Chr3:111296389 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.*2269G>T | single nucleotide variant | C syndrome [RCV000397882] | Chr3:111652075 [GRCh38] Chr3:111370922 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*869G>C | single nucleotide variant | C syndrome [RCV000334996] | Chr3:111650675 [GRCh38] Chr3:111369522 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.1216G>T (p.Val406Leu) | single nucleotide variant | not provided [RCV003083482]|not specified [RCV004071665] | Chr3:111623789 [GRCh38] Chr3:111342636 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1251C>A (p.Pro417=) | single nucleotide variant | not provided [RCV000881120] | Chr3:111624334 [GRCh38] Chr3:111343181 [GRCh37] Chr3:3q13.2 |
benign|likely benign |
NM_005816.5(CD96):c.1181-1G>A | single nucleotide variant | not provided [RCV000888681] | Chr3:111623753 [GRCh38] Chr3:111342600 [GRCh37] Chr3:3q13.2 |
benign|likely benign |
NM_005816.5(CD96):c.*819C>T | single nucleotide variant | C syndrome [RCV000378093] | Chr3:111650625 [GRCh38] Chr3:111369472 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.*1539G>T | single nucleotide variant | C syndrome [RCV000401736] | Chr3:111651345 [GRCh38] Chr3:111370192 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.853A>G (p.Ile285Val) | single nucleotide variant | C syndrome [RCV000401536] | Chr3:111598165 [GRCh38] Chr3:111317012 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.*1803G>A | single nucleotide variant | C syndrome [RCV000302794] | Chr3:111651609 [GRCh38] Chr3:111370456 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.*1815G>A | single nucleotide variant | C syndrome [RCV000357638] | Chr3:111651621 [GRCh38] Chr3:111370468 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.424G>C (p.Ala142Pro) | single nucleotide variant | CD96-related disorder [RCV003984167]|not provided [RCV002176696] | Chr3:111567528 [GRCh38] Chr3:111286375 [GRCh37] Chr3:3q13.13 |
benign |
NM_005816.5(CD96):c.1371A>G (p.Ala457=) | single nucleotide variant | not provided [RCV002088915] | Chr3:111637245 [GRCh38] Chr3:111356092 [GRCh37] Chr3:3q13.2 |
benign|likely benign |
NM_005816.5(CD96):c.792G>A (p.Thr264=) | single nucleotide variant | C syndrome [RCV000287596] | Chr3:111585363 [GRCh38] Chr3:111304210 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.1451C>T (p.Thr484Met) | single nucleotide variant | not specified [RCV004307103] | Chr3:111638142 [GRCh38] Chr3:111356989 [GRCh37] Chr3:3q13.2 |
likely benign|uncertain significance |
NM_005816.5(CD96):c.*2380C>A | single nucleotide variant | C syndrome [RCV000304623] | Chr3:111652186 [GRCh38] Chr3:111371033 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1247A>T (p.Gln416Leu) | single nucleotide variant | not provided [RCV000998121]|not specified [RCV004021871] | Chr3:111623820 [GRCh38] Chr3:111342667 [GRCh37] Chr3:3q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005816.5(CD96):c.*2090A>G | single nucleotide variant | C syndrome [RCV000290276] | Chr3:111651896 [GRCh38] Chr3:111370743 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*2380C>T | single nucleotide variant | C syndrome [RCV000340747] | Chr3:111652186 [GRCh38] Chr3:111371033 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.586C>T (p.Leu196Phe) | single nucleotide variant | not provided [RCV003569131] | Chr3:111579069 [GRCh38] Chr3:111297916 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.*1799G>A | single nucleotide variant | C syndrome [RCV000361113] | Chr3:111651605 [GRCh38] Chr3:111370452 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.*1553C>T | single nucleotide variant | C syndrome [RCV000306477] | Chr3:111651359 [GRCh38] Chr3:111370206 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.1671C>T (p.Asn557=) | single nucleotide variant | not provided [RCV000958680] | Chr3:111649767 [GRCh38] Chr3:111368614 [GRCh37] Chr3:3q13.2 |
benign|likely benign |
NM_005816.5(CD96):c.1362G>C (p.Pro454=) | single nucleotide variant | not provided [RCV002057821]|not specified [RCV001528574] | Chr3:111637236 [GRCh38] Chr3:111356083 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.160G>A (p.Val54Met) | single nucleotide variant | C syndrome [RCV000387119] | Chr3:111545144 [GRCh38] Chr3:111263991 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_198196.2(CD96):c.-121C>T | single nucleotide variant | C syndrome [RCV000308342] | Chr3:111542128 [GRCh38] Chr3:111260975 [GRCh37] Chr3:3q13.13 |
benign |
NM_005816.5(CD96):c.807+14A>C | single nucleotide variant | C syndrome [RCV002505818]|not provided [RCV002151344] | Chr3:111585392 [GRCh38] Chr3:111304239 [GRCh37] Chr3:3q13.13 |
benign|likely benign |
NM_005816.5(CD96):c.854T>C (p.Ile285Thr) | single nucleotide variant | C syndrome [RCV000309733] | Chr3:111598166 [GRCh38] Chr3:111317013 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.*671T>C | single nucleotide variant | C syndrome [RCV000327135] | Chr3:111650477 [GRCh38] Chr3:111369324 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.*435C>T | single nucleotide variant | C syndrome [RCV000366746] | Chr3:111650241 [GRCh38] Chr3:111369088 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.*1364G>A | single nucleotide variant | C syndrome [RCV000310529] | Chr3:111651170 [GRCh38] Chr3:111370017 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.970G>A (p.Val324Ile) | single nucleotide variant | C syndrome [RCV000370804] | Chr3:111600797 [GRCh38] Chr3:111319644 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.*1196G>C | single nucleotide variant | C syndrome [RCV000393164] | Chr3:111651002 [GRCh38] Chr3:111369849 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*160C>T | single nucleotide variant | C syndrome [RCV000297054] | Chr3:111649966 [GRCh38] Chr3:111368813 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.*396C>T | single nucleotide variant | C syndrome [RCV000312209] | Chr3:111650202 [GRCh38] Chr3:111369049 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.-51A>G | single nucleotide variant | C syndrome [RCV000330297] | Chr3:111542198 [GRCh38] Chr3:111261045 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.*125G>A | single nucleotide variant | C syndrome [RCV000350311] | Chr3:111649931 [GRCh38] Chr3:111368778 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.270T>C (p.Thr90=) | single nucleotide variant | C syndrome [RCV000372247] | Chr3:111545254 [GRCh38] Chr3:111264101 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.*1873G>A | single nucleotide variant | C syndrome [RCV000373065] | Chr3:111651679 [GRCh38] Chr3:111370526 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_198196.2(CD96):c.-115G>A | single nucleotide variant | C syndrome [RCV000273211] | Chr3:111542134 [GRCh38] Chr3:111260981 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1244C>T (p.Pro415Leu) | single nucleotide variant | C syndrome [RCV000263231] | Chr3:111623817 [GRCh38] Chr3:111342664 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*844A>G | single nucleotide variant | C syndrome [RCV000279891] | Chr3:111650650 [GRCh38] Chr3:111369497 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.54dup (p.Val19fs) | duplication | C syndrome [RCV000490362]|not provided [RCV000898988] | Chr3:111542298..111542299 [GRCh38] Chr3:111261145..111261146 [GRCh37] Chr3:3q13.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005816.5(CD96):c.*191G>A | single nucleotide variant | C syndrome [RCV000399432] | Chr3:111649997 [GRCh38] Chr3:111368844 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*680C>G | single nucleotide variant | C syndrome [RCV000363129] | Chr3:111650486 [GRCh38] Chr3:111369333 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*143C>A | single nucleotide variant | C syndrome [RCV000399716] | Chr3:111649949 [GRCh38] Chr3:111368796 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*2514T>G | single nucleotide variant | C syndrome [RCV000400003] | Chr3:111652320 [GRCh38] Chr3:111371167 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1456A>C (p.Thr486Pro) | single nucleotide variant | C syndrome [RCV000346643] | Chr3:111638147 [GRCh38] Chr3:111356994 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*1437A>G | single nucleotide variant | C syndrome [RCV000346751] | Chr3:111651243 [GRCh38] Chr3:111370090 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_198196.2(CD96):c.-117G>A | single nucleotide variant | C syndrome [RCV000365367] | Chr3:111542132 [GRCh38] Chr3:111260979 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.*2093_*2097del | deletion | C syndrome [RCV000293871] | Chr3:111651896..111651900 [GRCh38] Chr3:111370743..111370747 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*1843G>A | single nucleotide variant | C syndrome [RCV000318014] | Chr3:111651649 [GRCh38] Chr3:111370496 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*2076del | deletion | C syndrome [RCV000333618] | Chr3:111651882 [GRCh38] Chr3:111370729 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*2092_*2093insGAA | insertion | C syndrome [RCV000348776]|not provided [RCV004694700] | Chr3:111651896..111651897 [GRCh38] Chr3:111370743..111370744 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*2092_*2093insGAAAGAA | insertion | C syndrome [RCV000384625] | Chr3:111651896..111651897 [GRCh38] Chr3:111370743..111370744 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.891A>G (p.Glu297=) | single nucleotide variant | C syndrome [RCV000366769] | Chr3:111598203 [GRCh38] Chr3:111317050 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.*1155C>A | single nucleotide variant | C syndrome [RCV000295171] | Chr3:111650961 [GRCh38] Chr3:111369808 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*824A>T | single nucleotide variant | C syndrome [RCV000320103] | Chr3:111650630 [GRCh38] Chr3:111369477 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*1183T>A | single nucleotide variant | C syndrome [RCV000350202] | Chr3:111650989 [GRCh38] Chr3:111369836 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*2093del | deletion | C syndrome [RCV000388151] | Chr3:111651884 [GRCh38] Chr3:111370731 [GRCh37] Chr3:3q13.2 |
benign |
NM_005816.5(CD96):c.1337C>T (p.Pro446Leu) | single nucleotide variant | C syndrome [RCV000285823] | Chr3:111637211 [GRCh38] Chr3:111356058 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*172G>T | single nucleotide variant | C syndrome [RCV000370374] | Chr3:111649978 [GRCh38] Chr3:111368825 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*910A>T | single nucleotide variant | C syndrome [RCV000389388] | Chr3:111650716 [GRCh38] Chr3:111369563 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*807A>G | single nucleotide variant | C syndrome [RCV000323701] | Chr3:111650613 [GRCh38] Chr3:111369460 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*841G>C | single nucleotide variant | C syndrome [RCV000374726] | Chr3:111650647 [GRCh38] Chr3:111369494 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.935A>G (p.Asp312Gly) | single nucleotide variant | C syndrome [RCV000393939] | Chr3:111600762 [GRCh38] Chr3:111319609 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.*2094del | deletion | C syndrome [RCV000344264] | Chr3:111651900 [GRCh38] Chr3:111370747 [GRCh37] Chr3:3q13.2 |
uncertain significance |
GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 | copy number loss | See cases [RCV000448410] | Chr3:105094834..117441953 [GRCh37] Chr3:3q13.11-13.32 |
pathogenic |
NM_024508.5(ZBED2):c.590C>T (p.Ala197Val) | single nucleotide variant | not specified [RCV004320032] | Chr3:111593612 [GRCh38] Chr3:111312459 [GRCh37] Chr3:3q13.13 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_005816.5(CD96):c.86C>G (p.Thr29Arg) | single nucleotide variant | not specified [RCV004320780] | Chr3:111545070 [GRCh38] Chr3:111263917 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1645A>G (p.Lys549Glu) | single nucleotide variant | not provided [RCV003825708] | Chr3:111649741 [GRCh38] Chr3:111368588 [GRCh37] Chr3:3q13.2 |
uncertain significance |
GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1 | copy number loss | not provided [RCV000682294] | Chr3:110645295..115103586 [GRCh37] Chr3:3q13.13-13.31 |
pathogenic |
GRCh37/hg19 3q13.13-13.2(chr3:110719980-111389974)x3 | copy number gain | not provided [RCV000682295] | Chr3:110719980..111389974 [GRCh37] Chr3:3q13.13-13.2 |
uncertain significance |
NM_005816.5(CD96):c.934del (p.Asp312fs) | deletion | C syndrome [RCV001564042] | Chr3:111600761 [GRCh38] Chr3:111319608 [GRCh37] Chr3:3q13.2 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_005816.5(CD96):c.1452G>A (p.Thr484=) | single nucleotide variant | not provided [RCV000923948] | Chr3:111638143 [GRCh38] Chr3:111356990 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.741C>T (p.Val247=) | single nucleotide variant | not provided [RCV000936948] | Chr3:111579224 [GRCh38] Chr3:111298071 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.718dup (p.Ile240fs) | duplication | C syndrome [RCV001007892] | Chr3:111579197..111579198 [GRCh38] Chr3:111298044..111298045 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.811A>G (p.Arg271Gly) | single nucleotide variant | CD96-related disorder [RCV003920526]|not provided [RCV000881119] | Chr3:111598123 [GRCh38] Chr3:111316970 [GRCh37] Chr3:3q13.13 |
benign|likely benign |
NM_005816.5(CD96):c.1101C>G (p.Ser367=) | single nucleotide variant | not provided [RCV000937433] | Chr3:111606713 [GRCh38] Chr3:111325560 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.1584T>C (p.Cys528=) | single nucleotide variant | not provided [RCV000915529] | Chr3:111647649 [GRCh38] Chr3:111366496 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.1437T>C (p.Thr479=) | single nucleotide variant | not provided [RCV000915296] | Chr3:111638128 [GRCh38] Chr3:111356975 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.682A>C (p.Lys228Gln) | single nucleotide variant | not specified [RCV004783184] | Chr3:111579165 [GRCh38] Chr3:111298012 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1273C>T (p.Arg425Ter) | single nucleotide variant | not provided [RCV001889153] | Chr3:111624356 [GRCh38] Chr3:111343203 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.177C>T (p.Ser59=) | single nucleotide variant | not provided [RCV000931770] | Chr3:111545161 [GRCh38] Chr3:111264008 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.1389C>T (p.Asp463=) | single nucleotide variant | not provided [RCV000910271] | Chr3:111638080 [GRCh38] Chr3:111356927 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.1239C>G (p.Thr413=) | single nucleotide variant | not provided [RCV000937213] | Chr3:111623812 [GRCh38] Chr3:111342659 [GRCh37] Chr3:3q13.2 |
likely benign |
GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1 | copy number loss | not provided [RCV001005458] | Chr3:101812245..112174485 [GRCh37] Chr3:3q12.3-13.2 |
pathogenic |
NM_005816.5(CD96):c.1485G>T (p.Val495=) | single nucleotide variant | not provided [RCV001172151] | Chr3:111647550 [GRCh38] Chr3:111366397 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.808-4525G>A | single nucleotide variant | C syndrome [RCV001334732] | Chr3:111593595 [GRCh38] Chr3:111312442 [GRCh37] Chr3:3q13.13 |
pathogenic |
NM_005816.5(CD96):c.1283A>G (p.Asn428Ser) | single nucleotide variant | not specified [RCV004782112] | Chr3:111624366 [GRCh38] Chr3:111343213 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.794A>G (p.Asp265Gly) | single nucleotide variant | C syndrome [RCV001329468] | Chr3:111585365 [GRCh38] Chr3:111304212 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.500G>C (p.Ser167Thr) | single nucleotide variant | not provided [RCV001354174] | Chr3:111567604 [GRCh38] Chr3:111286451 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1390A>G (p.Asn464Asp) | single nucleotide variant | C syndrome [RCV001329466] | Chr3:111638081 [GRCh38] Chr3:111356928 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1618C>T (p.Pro540Ser) | single nucleotide variant | C syndrome [RCV001329467] | Chr3:111649714 [GRCh38] Chr3:111368561 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.544-1477_544-1459del | deletion | C syndrome [RCV001726520] | Chr3:111577549..111577567 [GRCh38] Chr3:111296396..111296414 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.689C>T (p.Ser230Phe) | single nucleotide variant | not provided [RCV001771513] | Chr3:111579172 [GRCh38] Chr3:111298019 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.422C>G (p.Thr141Arg) | single nucleotide variant | not provided [RCV001774787] | Chr3:111567526 [GRCh38] Chr3:111286373 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.359T>C (p.Leu120Pro) | single nucleotide variant | not provided [RCV002002158] | Chr3:111545343 [GRCh38] Chr3:111264190 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.808-17_816del | deletion | not provided [RCV001969006] | Chr3:111598100..111598125 [GRCh38] Chr3:111316947..111316972 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1421C>T (p.Ser474Leu) | single nucleotide variant | not provided [RCV002034023]|not specified [RCV004044754] | Chr3:111638112 [GRCh38] Chr3:111356959 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1258T>G (p.Ser420Ala) | single nucleotide variant | not provided [RCV001867635] | Chr3:111624341 [GRCh38] Chr3:111343188 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.61+17T>C | single nucleotide variant | not provided [RCV002127292] | Chr3:111542326 [GRCh38] Chr3:111261173 [GRCh37] Chr3:3q13.13 |
benign |
NM_005816.5(CD96):c.1236C>T (p.Asn412=) | single nucleotide variant | not provided [RCV002072622] | Chr3:111623809 [GRCh38] Chr3:111342656 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.816T>C (p.Phe272=) | single nucleotide variant | not provided [RCV002220816] | Chr3:111598128 [GRCh38] Chr3:111316975 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.1601+11T>C | single nucleotide variant | not provided [RCV002217560] | Chr3:111647677 [GRCh38] Chr3:111366524 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.747T>G (p.Val249=) | single nucleotide variant | not provided [RCV003121234] | Chr3:111579230 [GRCh38] Chr3:111298077 [GRCh37] Chr3:3q13.13 |
likely benign |
GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696) | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV002280741] | Chr3:106598767..115704696 [GRCh37] Chr3:3q13.12-13.31 |
pathogenic |
GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1 | copy number loss | not provided [RCV002472579] | Chr3:107059705..115005256 [GRCh37] Chr3:3q13.12-13.31 |
pathogenic |
NM_024508.5(ZBED2):c.409G>A (p.Gly137Ser) | single nucleotide variant | not specified [RCV004121895] | Chr3:111593793 [GRCh38] Chr3:111312640 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.361C>G (p.Arg121Gly) | single nucleotide variant | not specified [RCV004212902] | Chr3:111593841 [GRCh38] Chr3:111312688 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.452T>C (p.Ile151Thr) | single nucleotide variant | not specified [RCV004223597] | Chr3:111567556 [GRCh38] Chr3:111286403 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.278A>T (p.Glu93Val) | single nucleotide variant | not provided [RCV002861818] | Chr3:111545262 [GRCh38] Chr3:111264109 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.766C>T (p.Pro256Ser) | single nucleotide variant | not provided [RCV002621488] | Chr3:111585337 [GRCh38] Chr3:111304184 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.481C>A (p.Leu161Ile) | single nucleotide variant | not specified [RCV004083925] | Chr3:111593721 [GRCh38] Chr3:111312568 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.745G>T (p.Val249Phe) | single nucleotide variant | not provided [RCV002866441] | Chr3:111579228 [GRCh38] Chr3:111298075 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.743A>G (p.Lys248Arg) | single nucleotide variant | not provided [RCV002847364] | Chr3:111579226 [GRCh38] Chr3:111298073 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.422C>A (p.Thr141Lys) | single nucleotide variant | not specified [RCV004117584] | Chr3:111567526 [GRCh38] Chr3:111286373 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.670G>A (p.Asp224Asn) | single nucleotide variant | not provided [RCV003068083]|not specified [RCV004070316] | Chr3:111579153 [GRCh38] Chr3:111298000 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1699G>C (p.Glu567Gln) | single nucleotide variant | not specified [RCV004155844] | Chr3:111649795 [GRCh38] Chr3:111368642 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.484C>T (p.Pro162Ser) | single nucleotide variant | not specified [RCV004149698] | Chr3:111567588 [GRCh38] Chr3:111286435 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.353C>A (p.Ala118Asp) | single nucleotide variant | not specified [RCV004101131] | Chr3:111593849 [GRCh38] Chr3:111312696 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.769G>T (p.Val257Leu) | single nucleotide variant | not specified [RCV004245356] | Chr3:111585340 [GRCh38] Chr3:111304187 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1036C>T (p.Pro346Ser) | single nucleotide variant | not provided [RCV003730327]|not specified [RCV004194225] | Chr3:111600863 [GRCh38] Chr3:111319710 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1088G>T (p.Gly363Val) | single nucleotide variant | not specified [RCV004155319] | Chr3:111606700 [GRCh38] Chr3:111325547 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1549A>G (p.Met517Val) | single nucleotide variant | not specified [RCV004099089] | Chr3:111647614 [GRCh38] Chr3:111366461 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1126A>G (p.Thr376Ala) | single nucleotide variant | not specified [RCV004171930] | Chr3:111606738 [GRCh38] Chr3:111325585 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1151C>T (p.Pro384Leu) | single nucleotide variant | not specified [RCV004090564] | Chr3:111606763 [GRCh38] Chr3:111325610 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1477+17A>G | single nucleotide variant | not provided [RCV002966786] | Chr3:111638185 [GRCh38] Chr3:111357032 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.2T>C (p.Met1Thr) | single nucleotide variant | not provided [RCV002579411] | Chr3:111542250 [GRCh38] Chr3:111261097 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.898G>A (p.Gly300Arg) | single nucleotide variant | not provided [RCV002721342] | Chr3:111598210 [GRCh38] Chr3:111317057 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1249+1G>A | single nucleotide variant | C syndrome [RCV003144721]|not provided [RCV003738371] | Chr3:111623823 [GRCh38] Chr3:111342670 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_024508.5(ZBED2):c.209A>G (p.His70Arg) | single nucleotide variant | not specified [RCV004277244] | Chr3:111593993 [GRCh38] Chr3:111312840 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.110C>G (p.Pro37Arg) | single nucleotide variant | not specified [RCV004266515] | Chr3:111594092 [GRCh38] Chr3:111312939 [GRCh37] Chr3:3q13.13 |
uncertain significance |
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003222552] | Chr3:110966195..115843176 [GRCh37] Chr3:3q13.13-13.31 |
pathogenic |
NM_005816.5(CD96):c.1181-12T>C | single nucleotide variant | C syndrome [RCV003221334] | Chr3:111623742 [GRCh38] Chr3:111342589 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1093G>A (p.Glu365Lys) | single nucleotide variant | not specified [RCV004609952] | Chr3:111606705 [GRCh38] Chr3:111325552 [GRCh37] Chr3:3q13.2 |
uncertain significance |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003327614] | Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
pathogenic |
NM_005816.5(CD96):c.349G>C (p.Glu117Gln) | single nucleotide variant | not specified [RCV004337921] | Chr3:111545333 [GRCh38] Chr3:111264180 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.124A>G (p.Met42Val) | single nucleotide variant | not specified [RCV004347118] | Chr3:111594078 [GRCh38] Chr3:111312925 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.513G>C (p.Glu171Asp) | single nucleotide variant | not specified [RCV004346752] | Chr3:111593689 [GRCh38] Chr3:111312536 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.41T>C (p.Met14Thr) | single nucleotide variant | not specified [RCV004360716] | Chr3:111594161 [GRCh38] Chr3:111313008 [GRCh37] Chr3:3q13.13 |
uncertain significance |
GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1 | copy number loss | not provided [RCV003485398] | Chr3:110398276..113879363 [GRCh37] Chr3:3q13.13-13.31 |
uncertain significance |
NM_005816.5(CD96):c.329G>A (p.Cys110Tyr) | single nucleotide variant | not provided [RCV003437941] | Chr3:111545313 [GRCh38] Chr3:111264160 [GRCh37] Chr3:3q13.13 |
benign |
NM_005816.5(CD96):c.449C>T (p.Thr150Met) | single nucleotide variant | not provided [RCV003849169] | Chr3:111567553 [GRCh38] Chr3:111286400 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.1473C>A (p.Ile491=) | single nucleotide variant | not provided [RCV003576419] | Chr3:111638164 [GRCh38] Chr3:111357011 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.1087+6T>C | single nucleotide variant | not provided [RCV003667833] | Chr3:111600920 [GRCh38] Chr3:111319767 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.534A>G (p.Ala178=) | single nucleotide variant | not provided [RCV003732683] | Chr3:111567638 [GRCh38] Chr3:111286485 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.1602-7T>A | single nucleotide variant | not provided [RCV003720222] | Chr3:111649691 [GRCh38] Chr3:111368538 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.46A>G (p.Ile16Val) | single nucleotide variant | not provided [RCV003719527] | Chr3:111542294 [GRCh38] Chr3:111261141 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.131C>T (p.Thr44Ile) | single nucleotide variant | not provided [RCV003553276] | Chr3:111545115 [GRCh38] Chr3:111263962 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.1322-14T>A | single nucleotide variant | not specified [RCV004526503] | Chr3:111637182 [GRCh38] Chr3:111356029 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.377G>A (p.Gly126Asp) | single nucleotide variant | CD96-related disorder [RCV003984742]|not specified [RCV004369919] | Chr3:111545361 [GRCh38] Chr3:111264208 [GRCh37] Chr3:3q13.13 |
likely benign|uncertain significance |
NM_005816.5(CD96):c.*5G>A | single nucleotide variant | CD96-related disorder [RCV003924303] | Chr3:111649811 [GRCh38] Chr3:111368658 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.706G>A (p.Gly236Ser) | single nucleotide variant | not specified [RCV003988226] | Chr3:111579189 [GRCh38] Chr3:111298036 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1180+38A>T | single nucleotide variant | CD96-related disorder [RCV003951384] | Chr3:111606830 [GRCh38] Chr3:111325677 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.418+7A>G | single nucleotide variant | CD96-related disorder [RCV003917197] | Chr3:111545409 [GRCh38] Chr3:111264256 [GRCh37] Chr3:3q13.13 |
likely benign |
NM_005816.5(CD96):c.848C>G (p.Ala283Gly) | single nucleotide variant | CD96-related disorder [RCV003966971] | Chr3:111598160 [GRCh38] Chr3:111317007 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.505T>C (p.Ser169Pro) | single nucleotide variant | C syndrome [RCV003990470] | Chr3:111567609 [GRCh38] Chr3:111286456 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.614A>G (p.Asp205Gly) | single nucleotide variant | not specified [RCV004435596] | Chr3:111579097 [GRCh38] Chr3:111297944 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1525G>A (p.Val509Ile) | single nucleotide variant | not specified [RCV004435592] | Chr3:111647590 [GRCh38] Chr3:111366437 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_024508.5(ZBED2):c.509G>T (p.Arg170Leu) | single nucleotide variant | not specified [RCV004478669] | Chr3:111593693 [GRCh38] Chr3:111312540 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.124A>T (p.Met42Leu) | single nucleotide variant | not specified [RCV004478666] | Chr3:111594078 [GRCh38] Chr3:111312925 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.157C>T (p.Arg53Trp) | single nucleotide variant | not specified [RCV004478667] | Chr3:111594045 [GRCh38] Chr3:111312892 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.362G>A (p.Arg121His) | single nucleotide variant | not specified [RCV004478668] | Chr3:111593840 [GRCh38] Chr3:111312687 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.199C>A (p.Leu67Met) | single nucleotide variant | not specified [RCV004435593] | Chr3:111545183 [GRCh38] Chr3:111264030 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1138C>T (p.Leu380Phe) | single nucleotide variant | not specified [RCV004435590] | Chr3:111606750 [GRCh38] Chr3:111325597 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.575C>G (p.Ser192Cys) | single nucleotide variant | not specified [RCV004435594] | Chr3:111579058 [GRCh38] Chr3:111297905 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.579A>T (p.Gln193His) | single nucleotide variant | not specified [RCV004435595] | Chr3:111579062 [GRCh38] Chr3:111297909 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.382G>A (p.Gly128Arg) | single nucleotide variant | not specified [RCV004686059] | Chr3:111593820 [GRCh38] Chr3:111312667 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1526T>C (p.Val509Ala) | single nucleotide variant | not specified [RCV004606621] | Chr3:111647591 [GRCh38] Chr3:111366438 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1276G>A (p.Gly426Ser) | single nucleotide variant | not specified [RCV004606623] | Chr3:111624359 [GRCh38] Chr3:111343206 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.1499A>G (p.Lys500Arg) | single nucleotide variant | not specified [RCV004606624] | Chr3:111647564 [GRCh38] Chr3:111366411 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.449C>A (p.Thr150Lys) | single nucleotide variant | not specified [RCV004606625] | Chr3:111567553 [GRCh38] Chr3:111286400 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.765_773delinsTTAGCTTGTGGAAATTAAC (p.Pro256_Ile258delinsTer) | indel | not specified [RCV004698387] | Chr3:111585336..111585344 [GRCh38] Chr3:111304183..111304191 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.94G>A (p.Gly32Arg) | single nucleotide variant | not specified [RCV004688873] | Chr3:111594108 [GRCh38] Chr3:111312955 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1561G>A (p.Gly521Ser) | single nucleotide variant | not specified [RCV004606622] | Chr3:111647626 [GRCh38] Chr3:111366473 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.95A>G (p.Asn32Ser) | single nucleotide variant | not specified [RCV004609951] | Chr3:111545079 [GRCh38] Chr3:111263926 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_024508.5(ZBED2):c.412A>T (p.Asn138Tyr) | single nucleotide variant | not specified [RCV004686061] | Chr3:111593790 [GRCh38] Chr3:111312637 [GRCh37] Chr3:3q13.13 |
uncertain significance |
NM_005816.5(CD96):c.1701G>A (p.Glu567=) | single nucleotide variant | not specified [RCV004699896] | Chr3:111649797 [GRCh38] Chr3:111368644 [GRCh37] Chr3:3q13.2 |
likely benign |
NM_005816.5(CD96):c.1258_1264delinsGACTGAC (p.Ser420_Met422delinsAspTer) | indel | not provided [RCV004812230] | Chr3:111624341..111624347 [GRCh38] Chr3:111343188..111343194 [GRCh37] Chr3:3q13.2 |
uncertain significance |
NM_005816.5(CD96):c.12A>T (p.Lys4Asn) | single nucleotide variant | C syndrome [RCV004764824] | Chr3:111542260 [GRCh38] Chr3:111261107 [GRCh37] Chr3:3q13.13 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D3S1572 |
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RH41685 |
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SHGC-155976 |
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G15945 |
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STS-M88282 |
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D11S3114 |
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D1S1423 |
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D8S2279 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2420 | 2763 | 2218 | 4798 | 1719 | 2325 | 5 | 620 | 1928 | 461 | 2236 | 7212 | 6416 | 50 | 3594 | 1 | 844 | 1730 | 1594 | 171 |
RefSeq Transcripts | NG_012156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001318889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001410800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_005816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_198196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005247063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006713469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017005521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017005522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047447184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054344908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054344909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001739977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007093273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007093307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007093316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007093326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007093335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007093366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486622 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486624 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_241462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_924090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC055748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC092916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL833681 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW341041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM561433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB130968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HF583841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT900849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000283285 ⟹ ENSP00000283285 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000352690 ⟹ ENSP00000342040 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000438817 ⟹ ENSP00000389801 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000460744 ⟹ ENSP00000475194 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000465428 ⟹ ENSP00000417150 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000488054 ⟹ ENSP00000417680 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000494798 ⟹ ENSP00000417152 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001318889 ⟹ NP_001305818 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001410800 ⟹ NP_001397729 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_005816 ⟹ NP_005807 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_198196 ⟹ NP_937839 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_134917 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006713469 ⟹ XP_006713532 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047447184 ⟹ XP_047303140 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054344908 ⟹ XP_054200883 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054344909 ⟹ XP_054200884 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_001739977 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XR_007093273 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007093307 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007093316 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007093326 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007093335 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007093366 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008486617 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008486618 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008486619 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008486620 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008486621 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008486622 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008486623 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008486624 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008486625 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_241462 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XR_924090 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001305818 | (Get FASTA) | NCBI Sequence Viewer |
NP_001397729 | (Get FASTA) | NCBI Sequence Viewer | |
NP_005807 | (Get FASTA) | NCBI Sequence Viewer | |
NP_937839 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006713532 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047303140 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054200883 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054200884 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH20749 | (Get FASTA) | NCBI Sequence Viewer |
BAF83408 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37664 | (Get FASTA) | NCBI Sequence Viewer | |
CAI46155 | (Get FASTA) | NCBI Sequence Viewer | |
CCQ43338 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79696 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79697 | (Get FASTA) | NCBI Sequence Viewer | |
EAW79698 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000283285 | ||
ENSP00000283285.5 | |||
ENSP00000342040 | |||
ENSP00000342040.3 | |||
ENSP00000389801 | |||
ENSP00000389801.2 | |||
ENSP00000417150.1 | |||
ENSP00000417152 | |||
ENSP00000417152.1 | |||
ENSP00000417680.1 | |||
ENSP00000475194.1 | |||
GenBank Protein | P40200 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005807 ⟸ NM_005816 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | B2RCR7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_937839 ⟸ NM_198196 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q5JPB3 (UniProtKB/Swiss-Prot), P40200 (UniProtKB/Swiss-Prot), B2RCR7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006713532 ⟸ XM_006713469 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A8K3V4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001305818 ⟸ NM_001318889 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q8WUE2 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000389801 ⟸ ENST00000438817 |
Ensembl Acc Id: | ENSP00000417150 ⟸ ENST00000465428 |
Ensembl Acc Id: | ENSP00000283285 ⟸ ENST00000283285 |
Ensembl Acc Id: | ENSP00000417152 ⟸ ENST00000494798 |
Ensembl Acc Id: | ENSP00000342040 ⟸ ENST00000352690 |
Ensembl Acc Id: | ENSP00000417680 ⟸ ENST00000488054 |
Ensembl Acc Id: | ENSP00000475194 ⟸ ENST00000460744 |
RefSeq Acc Id: | XP_047303140 ⟸ XM_047447184 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | NP_001397729 ⟸ NM_001410800 |
- Peptide Label: | isoform 4 |
- UniProtKB: | E9PEJ1 (UniProtKB/TrEMBL), A8K3V4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054200883 ⟸ XM_054344908 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A8K3V4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054200884 ⟸ XM_054344909 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P40200-F1-model_v2 | AlphaFold | P40200 | 1-585 | view protein structure |
RGD ID: | 6865212 | ||||||||
Promoter ID: | EPDNEW_H5771 | ||||||||
Type: | initiation region | ||||||||
Name: | CD96_1 | ||||||||
Description: | CD96 molecule | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6800753 | ||||||||
Promoter ID: | HG_KWN:45810 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_2Hour, Jurkat, Lymphoblastoid | ||||||||
Transcripts: | NM_005816, NM_198196, UC003DXV.2, UC010HPY.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:16892 | AgrOrtholog |
COSMIC | CD96 | COSMIC |
Ensembl Genes | ENSG00000153283 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000283285 | ENTREZGENE |
ENST00000283285.10 | UniProtKB/Swiss-Prot | |
ENST00000352690 | ENTREZGENE | |
ENST00000352690.9 | UniProtKB/Swiss-Prot | |
ENST00000438817 | ENTREZGENE | |
ENST00000438817.6 | UniProtKB/TrEMBL | |
ENST00000460744.1 | UniProtKB/TrEMBL | |
ENST00000465428.1 | UniProtKB/TrEMBL | |
ENST00000488054.1 | UniProtKB/TrEMBL | |
ENST00000494798 | ENTREZGENE | |
ENST00000494798.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000153283 | GTEx |
HGNC ID | HGNC:16892 | ENTREZGENE |
Human Proteome Map | CD96 | Human Proteome Map |
InterPro | CD96 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:10225 | UniProtKB/Swiss-Prot |
NCBI Gene | CD96 | ENTREZGENE |
OMIM | 606037 | OMIM |
PANTHER | PTHR15317 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
T-CELL SURFACE PROTEIN TACTILE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA437 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | SM00409 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8K3V4 | ENTREZGENE, UniProtKB/TrEMBL |
B2RCR7 | ENTREZGENE, UniProtKB/TrEMBL | |
E9PEJ1 | ENTREZGENE, UniProtKB/TrEMBL | |
F8WDV3_HUMAN | UniProtKB/TrEMBL | |
H7C4F0_HUMAN | UniProtKB/TrEMBL | |
L8EAH0_HUMAN | UniProtKB/TrEMBL | |
P40200 | ENTREZGENE | |
Q5JPB3 | ENTREZGENE | |
Q8WUE2 | ENTREZGENE, UniProtKB/TrEMBL | |
TACT_HUMAN | UniProtKB/Swiss-Prot | |
U3KPT0_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | Q5JPB3 | UniProtKB/Swiss-Prot |