Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10231032 | PMID:12461688 | PMID:12477932 | PMID:12975309 | PMID:15489334 | PMID:16174644 | PMID:18283100 | PMID:19960030 | PMID:20379614 | PMID:21873635 | PMID:22689975 |
PMID:24375517 | PMID:25135642 | PMID:25825126 | PMID:26167880 | PMID:26186194 | PMID:28514442 | PMID:28986522 | PMID:29300381 | PMID:30656493 | PMID:33300174 | PMID:33629623 | PMID:33961781 |
PMID:34223797 | PMID:35748872 |
ARSG (Homo sapiens - human) |
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Arsg (Mus musculus - house mouse) |
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Arsg (Rattus norvegicus - Norway rat) |
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Arsg (Chinchilla lanigera - long-tailed chinchilla) |
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ARSG (Pan paniscus - bonobo/pygmy chimpanzee) |
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ARSG (Canis lupus familiaris - dog) |
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Arsg (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ARSG (Sus scrofa - pig) |
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ARSG (Chlorocebus sabaeus - green monkey) |
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Arsg (Heterocephalus glaber - naked mole-rat) |
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Variants in ARSG
378 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
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 17q24.2-24.3(chr17:67833866-70085854)x1 | copy number loss | See cases [RCV000053452] | Chr17:67833866..70085854 [GRCh38] Chr17:65829982..68081995 [GRCh37] Chr17:63260444..65593590 [NCBI36] Chr17:17q24.2-24.3 |
pathogenic |
NM_004694.5(SLC16A6):c.461T>C (p.Val154Ala) | single nucleotide variant | Inborn genetic diseases [RCV003192897] | Chr17:68272683 [GRCh38] Chr17:66268824 [GRCh37] Chr17:17q24.2 |
uncertain significance |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 | copy number gain | See cases [RCV000137437] | Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1 | copy number loss | See cases [RCV000138379] | Chr17:67584224..68639875 [GRCh38] Chr17:65580340..66636016 [GRCh37] Chr17:63010802..64147611 [NCBI36] Chr17:17q24.2 |
pathogenic |
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 | copy number loss | See cases [RCV000143113] | Chr17:68420514..71351235 [GRCh38] Chr17:66416655..69347376 [GRCh37] Chr17:63928250..66858971 [NCBI36] Chr17:17q24.2-24.3 |
pathogenic |
NM_004694.5(SLC16A6):c.647A>G (p.Gln216Arg) | single nucleotide variant | Inborn genetic diseases [RCV003201153] | Chr17:68271513 [GRCh38] Chr17:66267654 [GRCh37] Chr17:17q24.2 |
uncertain significance |
GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3 | copy number gain | See cases [RCV000446484] | Chr17:65343022..69344022 [GRCh37] Chr17:17q24.2-24.3 |
uncertain significance |
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 |
NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val) | single nucleotide variant | Inborn genetic diseases [RCV003270375] | Chr17:68426154 [GRCh38] Chr17:66422295 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met) | single nucleotide variant | Inborn genetic diseases [RCV003240489] | Chr17:68427143 [GRCh38] Chr17:66423284 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn) | single nucleotide variant | Inborn genetic diseases [RCV003272621] | Chr17:68430011 [GRCh38] Chr17:66426152 [GRCh37] Chr17:17q24.2 |
uncertain significance |
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 |
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr) | single nucleotide variant | Usher syndrome [RCV001002872]|Usher syndrome, type 4 [RCV000710003] | Chr17:68307626 [GRCh38] Chr17:66303767 [GRCh37] Chr17:17q24.2 |
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 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 |
NM_001267727.2(ARSG):c.1303+181T>G | single nucleotide variant | not provided [RCV001541540] | Chr17:68401631 [GRCh38] Chr17:66397772 [GRCh37] Chr17:17q24.2 |
benign |
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 | copy number gain | not provided [RCV000762750] | Chr17:64159738..74891024 [GRCh37] Chr17:17q24.1-25.2 |
likely pathogenic |
NM_001267727.2(ARSG):c.100C>T (p.Gln34Ter) | single nucleotide variant | not provided [RCV001056910] | Chr17:68307593 [GRCh38] Chr17:66303734 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.529C>T (p.Pro177Ser) | single nucleotide variant | not provided [RCV001058273] | Chr17:68351649 [GRCh38] Chr17:66347790 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.603C>T (p.Leu201=) | single nucleotide variant | not provided [RCV000947855] | Chr17:68356703 [GRCh38] Chr17:66352844 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.87G>A (p.Gly29=) | single nucleotide variant | not provided [RCV000879218] | Chr17:68307580 [GRCh38] Chr17:66303721 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_001267727.2(ARSG):c.1485C>T (p.Asn495=) | single nucleotide variant | not provided [RCV000949010] | Chr17:68420370 [GRCh38] Chr17:66416511 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1478T>C (p.Ile493Thr) | single nucleotide variant | not provided [RCV000906522] | Chr17:68420363 [GRCh38] Chr17:66416504 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.701dup (p.Ser235fs) | duplication | not provided [RCV001052949] | Chr17:68356800..68356801 [GRCh38] Chr17:66352941..66352942 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.683C>T (p.Thr228Ile) | single nucleotide variant | not provided [RCV001040828] | Chr17:68356783 [GRCh38] Chr17:66352924 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.452G>A (p.Arg151His) | single nucleotide variant | not provided [RCV001045236] | Chr17:68347170 [GRCh38] Chr17:66343311 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.754G>A (p.Val252Met) | single nucleotide variant | not provided [RCV001046645] | Chr17:68368597 [GRCh38] Chr17:66364738 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.786G>A (p.Ala262=) | single nucleotide variant | not provided [RCV000969865] | Chr17:68368629 [GRCh38] Chr17:66364770 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1092-5C>T | single nucleotide variant | Usher syndrome, type 4 [RCV002479118]|not provided [RCV000964016] | Chr17:68395068 [GRCh38] Chr17:66391209 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_004694.5(SLC16A6):c.567A>G (p.Leu189=) | single nucleotide variant | not provided [RCV000949008] | Chr17:68271593 [GRCh38] Chr17:66267734 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.32C>T (p.Ala11Val) | single nucleotide variant | not provided [RCV000949009] | Chr17:68307525 [GRCh38] Chr17:66303666 [GRCh37] Chr17:17q24.2 |
benign |
NM_017983.7(WIPI1):c.1192+4G>A | single nucleotide variant | not provided [RCV000968749] | Chr17:68427131 [GRCh38] Chr17:66423272 [GRCh37] Chr17:17q24.2 |
benign |
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) | copy number gain | not provided [RCV000767764] | Chr17:57357088..66306668 [GRCh37] Chr17:17q22-24.2 |
pathogenic |
NM_001267727.2(ARSG):c.785C>T (p.Ala262Val) | single nucleotide variant | not provided [RCV001052959] | Chr17:68368628 [GRCh38] Chr17:66364769 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1060C>A (p.Pro354Thr) | single nucleotide variant | not provided [RCV001060314] | Chr17:68385141 [GRCh38] Chr17:66381282 [GRCh37] Chr17:17q24.2 |
uncertain significance |
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 | copy number gain | not provided [RCV000845965] | Chr17:57869604..67078443 [GRCh37] Chr17:17q23.1-24.2 |
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 |
NM_001267727.2(ARSG):c.687G>C (p.Gln229His) | single nucleotide variant | not provided [RCV001230639] | Chr17:68356787 [GRCh38] Chr17:66352928 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1353del (p.Lys451fs) | deletion | not provided [RCV001228498] | Chr17:68420238 [GRCh38] Chr17:66416379 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.793G>A (p.Gly265Ser) | single nucleotide variant | not provided [RCV001213803] | Chr17:68368636 [GRCh38] Chr17:66364777 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.283C>T (p.Arg95Trp) | single nucleotide variant | not provided [RCV001202497] | Chr17:68343668 [GRCh38] Chr17:66339809 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.334G>A (p.Gly112Arg) | single nucleotide variant | not provided [RCV001231572] | Chr17:68343719 [GRCh38] Chr17:66339860 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro) | single nucleotide variant | Usher syndrome, type 4 [RCV001281351]|not provided [RCV001234820] | Chr17:68343638 [GRCh38] Chr17:66339779 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.697C>T (p.Arg233Cys) | single nucleotide variant | not provided [RCV001226970] | Chr17:68356797 [GRCh38] Chr17:66352938 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1103T>C (p.Ile368Thr) | single nucleotide variant | not provided [RCV001225401] | Chr17:68395084 [GRCh38] Chr17:66391225 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1090A>G (p.Ser364Gly) | single nucleotide variant | not provided [RCV001203993] | Chr17:68385171 [GRCh38] Chr17:66381312 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.280G>A (p.Gly94Ser) | single nucleotide variant | not provided [RCV001247209] | Chr17:68343665 [GRCh38] Chr17:66339806 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.391G>A (p.Val131Ile) | single nucleotide variant | not provided [RCV001230311] | Chr17:68343776 [GRCh38] Chr17:66339917 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.976C>T (p.Arg326Cys) | single nucleotide variant | not provided [RCV001229916] | Chr17:68370518 [GRCh38] Chr17:66366659 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1091+1G>A | single nucleotide variant | not provided [RCV001235928] | Chr17:68385173 [GRCh38] Chr17:66381314 [GRCh37] Chr17:17q24.2 |
likely pathogenic|uncertain significance |
NM_017983.7(WIPI1):c.473C>T (p.Ala158Val) | single nucleotide variant | Inborn genetic diseases [RCV003270011] | Chr17:68436437 [GRCh38] Chr17:66432578 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.923G>A (p.Arg308His) | single nucleotide variant | not provided [RCV000889145] | Chr17:68430038 [GRCh38] Chr17:66426179 [GRCh37] Chr17:17q24.2 |
benign |
NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) | single nucleotide variant | Neural tube defect [RCV000853418] | Chr17:68428919 [GRCh38] Chr17:66425060 [GRCh37] Chr17:17q24.2 |
affects |
NM_001267727.2(ARSG):c.63T>A (p.Pro21=) | single nucleotide variant | not provided [RCV000907333] | Chr17:68307556 [GRCh38] Chr17:66303697 [GRCh37] Chr17:17q24.2 |
benign |
NM_017983.7(WIPI1):c.237A>G (p.Lys79=) | single nucleotide variant | not provided [RCV000974136] | Chr17:68450824 [GRCh38] Chr17:66446965 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1071C>T (p.Val357=) | single nucleotide variant | not provided [RCV000954166] | Chr17:68385152 [GRCh38] Chr17:66381293 [GRCh37] Chr17:17q24.2 |
benign|likely benign |
NM_001267727.2(ARSG):c.1052G>A (p.Gly351Asp) | single nucleotide variant | not provided [RCV001201466] | Chr17:68385133 [GRCh38] Chr17:66381274 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.430G>A (p.Gly144Ser) | single nucleotide variant | not provided [RCV001207501] | Chr17:68347148 [GRCh38] Chr17:66343289 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1193G>A (p.Arg398Gln) | single nucleotide variant | not provided [RCV001226736] | Chr17:68395174 [GRCh38] Chr17:66391315 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.296G>A (p.Arg99His) | single nucleotide variant | not provided [RCV001212738] | Chr17:68343681 [GRCh38] Chr17:66339822 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.982+2T>G | single nucleotide variant | not provided [RCV001205646] | Chr17:68370526 [GRCh38] Chr17:66366667 [GRCh37] Chr17:17q24.2 |
likely pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.820_821inv (p.Trp274Gln) | inversion | not provided [RCV001235214] | Chr17:68368663..68368664 [GRCh38] Chr17:66364804..66364805 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1343T>C (p.Leu448Pro) | single nucleotide variant | not provided [RCV001241704] | Chr17:68420228 [GRCh38] Chr17:66416369 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.816C>G (p.Thr272=) | single nucleotide variant | not provided [RCV000889853] | Chr17:68271344 [GRCh38] Chr17:66267485 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.705-112G>A | single nucleotide variant | not provided [RCV001621737] | Chr17:68368436 [GRCh38] Chr17:66364577 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.567-228C>G | single nucleotide variant | not provided [RCV001685801] | Chr17:68356439 [GRCh38] Chr17:66352580 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1303+35G>T | single nucleotide variant | not provided [RCV001618167] | Chr17:68401485 [GRCh38] Chr17:66397626 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.982+74C>T | single nucleotide variant | not provided [RCV001594729] | Chr17:68370598 [GRCh38] Chr17:66366739 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.*32C>T | single nucleotide variant | not provided [RCV001657111] | Chr17:68420495 [GRCh38] Chr17:66416636 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1486G>A (p.Asp496Asn) | single nucleotide variant | not provided [RCV001061527] | Chr17:68420371 [GRCh38] Chr17:66416512 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.567-197A>G | single nucleotide variant | not provided [RCV001644197] | Chr17:68356470 [GRCh38] Chr17:66352611 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1091G>A (p.Ser364Asn) | single nucleotide variant | not provided [RCV001067231] | Chr17:68385172 [GRCh38] Chr17:66381313 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1092-236C>T | single nucleotide variant | not provided [RCV001693403] | Chr17:68394837 [GRCh38] Chr17:66390978 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1441G>A (p.Glu481Lys) | single nucleotide variant | not provided [RCV001064497] | Chr17:68420326 [GRCh38] Chr17:66416467 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.219-173A>G | single nucleotide variant | not provided [RCV001679633] | Chr17:68343431 [GRCh38] Chr17:66339572 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.195T>A (p.Asp65Glu) | single nucleotide variant | not provided [RCV001060168] | Chr17:68307688 [GRCh38] Chr17:66303829 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.827T>C (p.Met276Thr) | single nucleotide variant | Inborn genetic diseases [RCV002563814]|not provided [RCV001234527] | Chr17:68368670 [GRCh38] Chr17:66364811 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.566+3_566+8del | deletion | not provided [RCV001202499] | Chr17:68351688..68351693 [GRCh38] Chr17:66347829..66347834 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.1150C>T (p.Arg384Trp) | single nucleotide variant | not provided [RCV001051728] | Chr17:68395131 [GRCh38] Chr17:66391272 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.284G>A (p.Arg95Gln) | single nucleotide variant | not provided [RCV001235028] | Chr17:68343669 [GRCh38] Chr17:66339810 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.712G>A (p.Gly238Arg) | single nucleotide variant | not provided [RCV001064561] | Chr17:68368555 [GRCh38] Chr17:66364696 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.787C>A (p.Pro263Thr) | single nucleotide variant | not provided [RCV001245776] | Chr17:68368630 [GRCh38] Chr17:66364771 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.988A>T (p.Ser330Cys) | single nucleotide variant | not provided [RCV001232139] | Chr17:68385069 [GRCh38] Chr17:66381210 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.91del (p.Thr31fs) | deletion | not provided [RCV001232605] | Chr17:68307581 [GRCh38] Chr17:66303722 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.931G>A (p.Glu311Lys) | single nucleotide variant | not provided [RCV001313593] | Chr17:68370473 [GRCh38] Chr17:66366614 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.263G>A (p.Arg88Gln) | single nucleotide variant | not provided [RCV001319182] | Chr17:68343648 [GRCh38] Chr17:66339789 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.451C>T (p.Arg151Cys) | single nucleotide variant | not provided [RCV001299037] | Chr17:68347169 [GRCh38] Chr17:66343310 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1326del (p.Ser443fs) | deletion | Usher syndrome, type 4 [RCV001281078]|not provided [RCV001871630] | Chr17:68420209 [GRCh38] Chr17:66416350 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.1412G>A (p.Gly471Asp) | single nucleotide variant | Inborn genetic diseases [RCV002541860]|not provided [RCV001298427] | Chr17:68420297 [GRCh38] Chr17:66416438 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1385C>T (p.Thr462Ile) | single nucleotide variant | not provided [RCV001341158] | Chr17:68420270 [GRCh38] Chr17:66416411 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.983-2_983-1del | deletion | not provided [RCV001315677] | Chr17:68385062..68385063 [GRCh38] Chr17:66381203..66381204 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.1279C>T (p.Arg427Cys) | single nucleotide variant | not provided [RCV001374066] | Chr17:68401426 [GRCh38] Chr17:66397567 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1120G>C (p.Ala374Pro) | single nucleotide variant | Inborn genetic diseases [RCV002550940]|not provided [RCV001374291] | Chr17:68395101 [GRCh38] Chr17:66391242 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.698G>A (p.Arg233His) | single nucleotide variant | not provided [RCV001363440] | Chr17:68356798 [GRCh38] Chr17:66352939 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1465G>A (p.Val489Ile) | single nucleotide variant | not provided [RCV001369763] | Chr17:68420350 [GRCh38] Chr17:66416491 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.406+16G>A | single nucleotide variant | not provided [RCV001421479] | Chr17:68343807 [GRCh38] Chr17:66339948 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.455-18C>T | single nucleotide variant | not provided [RCV001421900] | Chr17:68351557 [GRCh38] Chr17:66347698 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.598G>A (p.Ala200Thr) | single nucleotide variant | not provided [RCV001371569] | Chr17:68356698 [GRCh38] Chr17:66352839 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.496G>T (p.Gly166Cys) | single nucleotide variant | not provided [RCV001326262] | Chr17:68351616 [GRCh38] Chr17:66347757 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1171G>A (p.Val391Ile) | single nucleotide variant | not provided [RCV001373590] | Chr17:68395152 [GRCh38] Chr17:66391293 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1025G>A (p.Arg342Gln) | single nucleotide variant | not provided [RCV001360275] | Chr17:68385106 [GRCh38] Chr17:66381247 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1381G>A (p.Asp461Asn) | single nucleotide variant | not provided [RCV001360475] | Chr17:68420266 [GRCh38] Chr17:66416407 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.140G>A (p.Gly47Glu) | single nucleotide variant | not provided [RCV001344924] | Chr17:68307633 [GRCh38] Chr17:66303774 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.506A>C (p.Asp169Ala) | single nucleotide variant | not provided [RCV001301883] | Chr17:68351626 [GRCh38] Chr17:66347767 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys) | single nucleotide variant | Usher syndrome, type 4 [RCV001375496] | Chr17:68401417 [GRCh38] Chr17:66397558 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn) | single nucleotide variant | Usher syndrome, type 4 [RCV001375495]|not provided [RCV001299296] | Chr17:68307623 [GRCh38] Chr17:66303764 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.977G>A (p.Arg326His) | single nucleotide variant | Inborn genetic diseases [RCV003166700]|not provided [RCV001302245] | Chr17:68370519 [GRCh38] Chr17:66366660 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_001267727.2(ARSG):c.1562G>A (p.Arg521His) | single nucleotide variant | not provided [RCV001306187] | Chr17:68420447 [GRCh38] Chr17:66416588 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.396T>A (p.Thr132=) | single nucleotide variant | not provided [RCV001321320] | Chr17:68343781 [GRCh38] Chr17:66339922 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_001267727.2(ARSG):c.286C>G (p.Leu96Val) | single nucleotide variant | Inborn genetic diseases [RCV002545130]|not provided [RCV001323743] | Chr17:68343671 [GRCh38] Chr17:66339812 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1191C>T (p.Gly397=) | single nucleotide variant | not provided [RCV001324421] | Chr17:68395172 [GRCh38] Chr17:66391313 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_001267727.2(ARSG):c.638C>T (p.Pro213Leu) | single nucleotide variant | not provided [RCV001371281] | Chr17:68356738 [GRCh38] Chr17:66352879 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp) | single nucleotide variant | Usher syndrome, type 4 [RCV001281350] | Chr17:68343723 [GRCh38] Chr17:66339864 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1005G>A (p.Thr335=) | single nucleotide variant | not provided [RCV001414183] | Chr17:68385086 [GRCh38] Chr17:66381227 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1046G>T (p.Trp349Leu) | single nucleotide variant | not provided [RCV001360685] | Chr17:68385127 [GRCh38] Chr17:66381268 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.879A>G (p.Glu293=) | single nucleotide variant | not provided [RCV001396406] | Chr17:68368722 [GRCh38] Chr17:66364863 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.731A>G (p.Tyr244Cys) | single nucleotide variant | not provided [RCV001369662] | Chr17:68368574 [GRCh38] Chr17:66364715 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1557C>T (p.Ala519=) | single nucleotide variant | not provided [RCV001412957] | Chr17:68420442 [GRCh38] Chr17:66416583 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.454+1G>T | single nucleotide variant | not provided [RCV001359124] | Chr17:68347173 [GRCh38] Chr17:66343314 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.765_766inv (p.Val256Met) | inversion | not provided [RCV001492410] | Chr17:68368608..68368609 [GRCh38] Chr17:66364749..66364750 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.976C>G (p.Arg326Gly) | single nucleotide variant | not provided [RCV001509620] | Chr17:68370518 [GRCh38] Chr17:66366659 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.455-16G>A | single nucleotide variant | not provided [RCV001522956] | Chr17:68351559 [GRCh38] Chr17:66347700 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.903A>G (p.Gly301=) | single nucleotide variant | not provided [RCV001516180] | Chr17:68370445 [GRCh38] Chr17:66366586 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1332G>C (p.Thr444=) | single nucleotide variant | not provided [RCV001488021] | Chr17:68420217 [GRCh38] Chr17:66416358 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1154G>A (p.Arg385His) | single nucleotide variant | not provided [RCV001515561] | Chr17:68395135 [GRCh38] Chr17:66391276 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1500C>T (p.Ser500=) | single nucleotide variant | not provided [RCV001483778] | Chr17:68420385 [GRCh38] Chr17:66416526 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1303+149A>G | single nucleotide variant | not provided [RCV001538836] | Chr17:68401599 [GRCh38] Chr17:66397740 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.408C>G (p.Gly136=) | single nucleotide variant | not provided [RCV001487441] | Chr17:68347126 [GRCh38] Chr17:66343267 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1380C>T (p.Asp460=) | single nucleotide variant | not provided [RCV001426719] | Chr17:68420265 [GRCh38] Chr17:66416406 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1440C>T (p.Pro480=) | single nucleotide variant | not provided [RCV001493095] | Chr17:68420325 [GRCh38] Chr17:66416466 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.450C>T (p.Phe150=) | single nucleotide variant | not provided [RCV001419135] | Chr17:68347168 [GRCh38] Chr17:66343309 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1491C>T (p.Asn497=) | single nucleotide variant | not provided [RCV001438095] | Chr17:68420376 [GRCh38] Chr17:66416517 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.704+9T>C | single nucleotide variant | not provided [RCV001424527] | Chr17:68356813 [GRCh38] Chr17:66352954 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.835C>G (p.Leu279Val) | single nucleotide variant | not provided [RCV001409909] | Chr17:68368678 [GRCh38] Chr17:66364819 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.983-4A>G | single nucleotide variant | not provided [RCV001392974] | Chr17:68385060 [GRCh38] Chr17:66381201 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.705-10C>T | single nucleotide variant | not provided [RCV001410230] | Chr17:68368538 [GRCh38] Chr17:66364679 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.207G>A (p.Ser69=) | single nucleotide variant | not provided [RCV001441906] | Chr17:68307700 [GRCh38] Chr17:66303841 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1260G>T (p.Leu420=) | single nucleotide variant | not provided [RCV001398131] | Chr17:68401407 [GRCh38] Chr17:66397548 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1113T>C (p.Thr371=) | single nucleotide variant | not provided [RCV001437677] | Chr17:68395094 [GRCh38] Chr17:66391235 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1482C>T (p.Ala494=) | single nucleotide variant | not provided [RCV001444631] | Chr17:68420367 [GRCh38] Chr17:66416508 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1419G>A (p.Ala473=) | single nucleotide variant | not provided [RCV001408382] | Chr17:68420304 [GRCh38] Chr17:66416445 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.447C>T (p.Asn149=) | single nucleotide variant | not provided [RCV001429035] | Chr17:68347165 [GRCh38] Chr17:66343306 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1317G>A (p.Ala439=) | single nucleotide variant | not provided [RCV001429636] | Chr17:68420202 [GRCh38] Chr17:66416343 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1303G>A (p.Gly435Ser) | single nucleotide variant | not provided [RCV001408659] | Chr17:68401450 [GRCh38] Chr17:66397591 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1506T>C (p.Asp502=) | single nucleotide variant | not provided [RCV001432317] | Chr17:68420391 [GRCh38] Chr17:66416532 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1512_1531del (p.Gln505fs) | deletion | not provided [RCV001682658] | Chr17:68420396..68420415 [GRCh38] Chr17:66416537..66416556 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_001267727.2(ARSG):c.983-212G>A | single nucleotide variant | not provided [RCV001610820] | Chr17:68384852 [GRCh38] Chr17:66380993 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1110A>G (p.Pro370=) | single nucleotide variant | not provided [RCV001519932] | Chr17:68395091 [GRCh38] Chr17:66391232 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1091+72A>G | single nucleotide variant | not provided [RCV001687337] | Chr17:68385244 [GRCh38] Chr17:66381385 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1212+229T>C | single nucleotide variant | not provided [RCV001695703] | Chr17:68395422 [GRCh38] Chr17:66391563 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.279C>T (p.Thr93=) | single nucleotide variant | not provided [RCV001455568] | Chr17:68343664 [GRCh38] Chr17:66339805 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.765T>C (p.Pro255=) | single nucleotide variant | Usher syndrome, type 4 [RCV001554171]|not provided [RCV001512677] | Chr17:68368608 [GRCh38] Chr17:66364749 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.407-84A>G | single nucleotide variant | not provided [RCV001654790] | Chr17:68347041 [GRCh38] Chr17:66343182 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.218+64A>T | single nucleotide variant | not provided [RCV001674646] | Chr17:68307775 [GRCh38] Chr17:66303916 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.930T>C (p.Cys310=) | single nucleotide variant | not provided [RCV001501551] | Chr17:68370472 [GRCh38] Chr17:66366613 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.595G>A (p.Val199Met) | single nucleotide variant | not provided [RCV001520222] | Chr17:68356695 [GRCh38] Chr17:66352836 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.756G>A (p.Val252=) | single nucleotide variant | not provided [RCV001512776] | Chr17:68368599 [GRCh38] Chr17:66364740 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1304-8CT[2] | microsatellite | not provided [RCV001487286] | Chr17:68420181..68420182 [GRCh38] Chr17:66416322..66416323 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.711C>T (p.Ser237=) | single nucleotide variant | not provided [RCV001403292] | Chr17:68368554 [GRCh38] Chr17:66364695 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1026G>A (p.Arg342=) | single nucleotide variant | not provided [RCV001516503] | Chr17:68385107 [GRCh38] Chr17:66381248 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1233C>T (p.Ser411=) | single nucleotide variant | not provided [RCV001513126] | Chr17:68401380 [GRCh38] Chr17:66397521 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1199A>G (p.Gln400Arg) | single nucleotide variant | not provided [RCV001471067] | Chr17:68395180 [GRCh38] Chr17:66391321 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.351C>T (p.Asn117=) | single nucleotide variant | not provided [RCV001496533] | Chr17:68343736 [GRCh38] Chr17:66339877 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1092-4G>A | single nucleotide variant | not provided [RCV001458896] | Chr17:68395069 [GRCh38] Chr17:66391210 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1299T>C (p.Ile433=) | single nucleotide variant | not provided [RCV001423370] | Chr17:68401446 [GRCh38] Chr17:66397587 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.540G>A (p.Ala180=) | single nucleotide variant | not provided [RCV001401711] | Chr17:68351660 [GRCh38] Chr17:66347801 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.612T>C (p.Tyr204=) | single nucleotide variant | not provided [RCV001515501] | Chr17:68356712 [GRCh38] Chr17:66352853 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1213-10C>T | single nucleotide variant | not provided [RCV001461982] | Chr17:68401350 [GRCh38] Chr17:66397491 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.707C>G (p.Thr236Ser) | single nucleotide variant | Usher syndrome, type 4 [RCV001554170]|not provided [RCV001514724] | Chr17:68368550 [GRCh38] Chr17:66364691 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.820T>C (p.Trp274Arg) | single nucleotide variant | Usher syndrome, type 4 [RCV001554172]|not provided [RCV001514725] | Chr17:68368663 [GRCh38] Chr17:66364804 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1192C>T (p.Arg398Trp) | single nucleotide variant | not provided [RCV001514937] | Chr17:68395173 [GRCh38] Chr17:66391314 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.360C>T (p.Thr120=) | single nucleotide variant | not provided [RCV001503721] | Chr17:68343745 [GRCh38] Chr17:66339886 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1091+7G>A | single nucleotide variant | not provided [RCV001443821] | Chr17:68385179 [GRCh38] Chr17:66381320 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.426C>T (p.His142=) | single nucleotide variant | not provided [RCV001501364] | Chr17:68347144 [GRCh38] Chr17:66343285 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.396T>G (p.Thr132=) | single nucleotide variant | not provided [RCV001435704] | Chr17:68343781 [GRCh38] Chr17:66339922 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1331C>T (p.Thr444Met) | single nucleotide variant | not provided [RCV001520149] | Chr17:68420216 [GRCh38] Chr17:66416357 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.982+5G>A | single nucleotide variant | not provided [RCV001896890] | Chr17:68370529 [GRCh38] Chr17:66366670 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1418C>T (p.Ala473Val) | single nucleotide variant | not provided [RCV001871133] | Chr17:68420303 [GRCh38] Chr17:66416444 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.408C>T (p.Gly136=) | single nucleotide variant | not provided [RCV001874673] | Chr17:68347126 [GRCh38] Chr17:66343267 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_001267727.2(ARSG):c.526C>T (p.Pro176Ser) | single nucleotide variant | not provided [RCV001864452] | Chr17:68351646 [GRCh38] Chr17:66347787 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.21G>A (p.Lys7=) | single nucleotide variant | not provided [RCV002044719] | Chr17:68307514 [GRCh38] Chr17:66303655 [GRCh37] Chr17:17q24.2 |
likely benign|uncertain significance |
NM_001267727.2(ARSG):c.295C>T (p.Arg99Cys) | single nucleotide variant | not provided [RCV001948998] | Chr17:68343680 [GRCh38] Chr17:66339821 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.450C>G (p.Phe150Leu) | single nucleotide variant | not provided [RCV002025817] | Chr17:68347168 [GRCh38] Chr17:66343309 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1438C>T (p.Pro480Ser) | single nucleotide variant | not provided [RCV002000379] | Chr17:68420323 [GRCh38] Chr17:66416464 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1552del (p.Ile518fs) | deletion | not provided [RCV002017106] | Chr17:68420435 [GRCh38] Chr17:66416576 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1000C>A (p.Gln334Lys) | single nucleotide variant | not provided [RCV001929263] | Chr17:68385081 [GRCh38] Chr17:66381222 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1501G>A (p.Ala501Thr) | single nucleotide variant | Inborn genetic diseases [RCV002549055]|not provided [RCV002031460] | Chr17:68420386 [GRCh38] Chr17:66416527 [GRCh37] Chr17:17q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001267727.2(ARSG):c.934C>G (p.Leu312Val) | single nucleotide variant | not provided [RCV001985979] | Chr17:68370476 [GRCh38] Chr17:66366617 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1340A>G (p.Glu447Gly) | single nucleotide variant | not provided [RCV002024128] | Chr17:68420225 [GRCh38] Chr17:66416366 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1151G>A (p.Arg384Gln) | single nucleotide variant | not provided [RCV001872140] | Chr17:68395132 [GRCh38] Chr17:66391273 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1282T>C (p.Tyr428His) | single nucleotide variant | not provided [RCV001966848] | Chr17:68401429 [GRCh38] Chr17:66397570 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66303635)_(66416604_?)del | deletion | not provided [RCV001985200] | Chr17:66303635..66416604 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.773A>C (p.Gln258Pro) | single nucleotide variant | not provided [RCV002039930] | Chr17:68368616 [GRCh38] Chr17:66364757 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66303635)_(66303872_?)del | deletion | not provided [RCV002004575] | Chr17:66303635..66303872 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.922C>T (p.Gln308Ter) | single nucleotide variant | not provided [RCV001985580] | Chr17:68370464 [GRCh38] Chr17:66366605 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.862G>A (p.Asp288Asn) | single nucleotide variant | not provided [RCV002004701] | Chr17:68368705 [GRCh38] Chr17:66364846 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.554_556del (p.Asp185del) | deletion | not provided [RCV002020938] | Chr17:68351672..68351674 [GRCh38] Chr17:66347813..66347815 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.539C>T (p.Ala180Val) | single nucleotide variant | not provided [RCV002039985] | Chr17:68351659 [GRCh38] Chr17:66347800 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66364669)_(66366685_?)del | deletion | not provided [RCV001871083] | Chr17:66364669..66366685 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1448G>T (p.Arg483Ile) | single nucleotide variant | not provided [RCV002023345] | Chr17:68420333 [GRCh38] Chr17:66416474 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1560C>A (p.Cys520Ter) | single nucleotide variant | not provided [RCV002049044] | Chr17:68420445 [GRCh38] Chr17:66416586 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1351A>G (p.Lys451Glu) | single nucleotide variant | not provided [RCV001893575] | Chr17:68420236 [GRCh38] Chr17:66416377 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1267del (p.Val423fs) | deletion | not provided [RCV001981565] | Chr17:68401414 [GRCh38] Chr17:66397555 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1093G>A (p.Val365Met) | single nucleotide variant | Inborn genetic diseases [RCV003250421]|not provided [RCV002038178] | Chr17:68395074 [GRCh38] Chr17:66391215 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.146G>A (p.Gly49Asp) | single nucleotide variant | not provided [RCV002019843] | Chr17:68307639 [GRCh38] Chr17:66303780 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.570C>A (p.Asn190Lys) | single nucleotide variant | not provided [RCV002050049] | Chr17:68356670 [GRCh38] Chr17:66352811 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1171G>C (p.Val391Leu) | single nucleotide variant | not provided [RCV002000989] | Chr17:68395152 [GRCh38] Chr17:66391293 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.938C>T (p.Ala313Val) | single nucleotide variant | not provided [RCV001917380] | Chr17:68370480 [GRCh38] Chr17:66366621 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.298A>G (p.Asn100Asp) | single nucleotide variant | not provided [RCV001921853] | Chr17:68343683 [GRCh38] Chr17:66339824 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.790C>T (p.Arg264Trp) | single nucleotide variant | not provided [RCV001997216] | Chr17:68368633 [GRCh38] Chr17:66364774 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1274T>G (p.Leu425Arg) | single nucleotide variant | not provided [RCV001977307] | Chr17:68401421 [GRCh38] Chr17:66397562 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.218+1G>A | single nucleotide variant | not provided [RCV002014955] | Chr17:68307712 [GRCh38] Chr17:66303853 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.794G>A (p.Gly265Asp) | single nucleotide variant | not provided [RCV001954208] | Chr17:68368637 [GRCh38] Chr17:66364778 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.138G>A (p.Met46Ile) | single nucleotide variant | not provided [RCV001881065] | Chr17:68307631 [GRCh38] Chr17:66303772 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.218+2T>C | single nucleotide variant | not provided [RCV001919491] | Chr17:68307713 [GRCh38] Chr17:66303854 [GRCh37] Chr17:17q24.2 |
likely pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.704+3G>T | single nucleotide variant | not provided [RCV001867558] | Chr17:68356807 [GRCh38] Chr17:66352948 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.748A>G (p.Met250Val) | single nucleotide variant | not provided [RCV001919780] | Chr17:68368591 [GRCh38] Chr17:66364732 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1171G>T (p.Val391Phe) | single nucleotide variant | not provided [RCV001978166] | Chr17:68395152 [GRCh38] Chr17:66391293 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66339725)_(66352965_?)dup | duplication | not provided [RCV002014705] | Chr17:66339725..66352965 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.625A>G (p.Ile209Val) | single nucleotide variant | not provided [RCV001952386] | Chr17:68356725 [GRCh38] Chr17:66352866 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.724C>G (p.Leu242Val) | single nucleotide variant | not provided [RCV001916000] | Chr17:68368567 [GRCh38] Chr17:66364708 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.470T>A (p.Phe157Tyr) | single nucleotide variant | not provided [RCV001972239] | Chr17:68351590 [GRCh38] Chr17:66347731 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.206C>T (p.Ser69Leu) | single nucleotide variant | not provided [RCV002046349] | Chr17:68307699 [GRCh38] Chr17:66303840 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.719_727del (p.Pro240_Leu242del) | deletion | not provided [RCV002013951] | Chr17:68368560..68368568 [GRCh38] Chr17:66364701..66364709 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.995C>G (p.Ala332Gly) | single nucleotide variant | not provided [RCV001935599] | Chr17:68385076 [GRCh38] Chr17:66381217 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1545del (p.Tyr516fs) | deletion | not provided [RCV001917423] | Chr17:68420428 [GRCh38] Chr17:66416569 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1382_1387del (p.Asp461_Thr462del) | deletion | not provided [RCV001973827] | Chr17:68420265..68420270 [GRCh38] Chr17:66416406..66416411 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1550A>C (p.Gln517Pro) | single nucleotide variant | not provided [RCV001918333] | Chr17:68420435 [GRCh38] Chr17:66416576 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.4G>T (p.Gly2Cys) | single nucleotide variant | not provided [RCV001973920] | Chr17:68307497 [GRCh38] Chr17:66303638 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.290G>A (p.Gly97Asp) | single nucleotide variant | not provided [RCV001905725] | Chr17:68343675 [GRCh38] Chr17:66339816 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1307G>A (p.Gly436Glu) | single nucleotide variant | not provided [RCV001925964] | Chr17:68420192 [GRCh38] Chr17:66416333 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.527C>T (p.Pro176Leu) | single nucleotide variant | not provided [RCV001980599] | Chr17:68351647 [GRCh38] Chr17:66347788 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1228A>G (p.Asn410Asp) | single nucleotide variant | not provided [RCV002030856] | Chr17:68401375 [GRCh38] Chr17:66397516 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.311G>A (p.Arg104His) | single nucleotide variant | not provided [RCV002035681] | Chr17:68343696 [GRCh38] Chr17:66339837 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.914dup (p.Trp306fs) | duplication | not provided [RCV001971910] | Chr17:68370453..68370454 [GRCh38] Chr17:66366594..66366595 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.1516G>A (p.Asp506Asn) | single nucleotide variant | not provided [RCV001970786] | Chr17:68420401 [GRCh38] Chr17:66416542 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1177G>A (p.Glu393Lys) | single nucleotide variant | not provided [RCV001972200] | Chr17:68395158 [GRCh38] Chr17:66391299 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.37G>T (p.Val13Leu) | single nucleotide variant | not provided [RCV001979215] | Chr17:68307530 [GRCh38] Chr17:66303671 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.344C>T (p.Pro115Leu) | single nucleotide variant | not provided [RCV001989405] | Chr17:68343729 [GRCh38] Chr17:66339870 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1004C>T (p.Thr335Met) | single nucleotide variant | ARSG-related condition [RCV003394296]|not provided [RCV001870298] | Chr17:68385085 [GRCh38] Chr17:66381226 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1367dup (p.Asn457fs) | duplication | not provided [RCV001979033] | Chr17:68420248..68420249 [GRCh38] Chr17:66416389..66416390 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1315G>A (p.Ala439Thr) | single nucleotide variant | not provided [RCV001976872] | Chr17:68420200 [GRCh38] Chr17:66416341 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.505G>A (p.Asp169Asn) | single nucleotide variant | not provided [RCV001973548] | Chr17:68351625 [GRCh38] Chr17:66347766 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1092C>T (p.Ser364=) | single nucleotide variant | not provided [RCV001955284] | Chr17:68395073 [GRCh38] Chr17:66391214 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.445A>T (p.Asn149Tyr) | single nucleotide variant | not provided [RCV002017771] | Chr17:68347163 [GRCh38] Chr17:66343304 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.307A>C (p.Thr103Pro) | single nucleotide variant | not provided [RCV001959826] | Chr17:68343692 [GRCh38] Chr17:66339833 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.653G>T (p.Ser218Ile) | single nucleotide variant | not provided [RCV001906780] | Chr17:68356753 [GRCh38] Chr17:66352894 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.982+1G>T | single nucleotide variant | not provided [RCV001999072] | Chr17:68370525 [GRCh38] Chr17:66366666 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1415G>A (p.Gly472Asp) | single nucleotide variant | not provided [RCV001884796] | Chr17:68420300 [GRCh38] Chr17:66416441 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66303635)_(66596807_?)dup | duplication | not provided [RCV001918933] | Chr17:66303635..66596807 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1330A>G (p.Thr444Ala) | single nucleotide variant | not provided [RCV001934483] | Chr17:68420215 [GRCh38] Chr17:66416356 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.860T>C (p.Val287Ala) | single nucleotide variant | not provided [RCV001995187] | Chr17:68368703 [GRCh38] Chr17:66364844 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.15T>C (p.Phe5=) | single nucleotide variant | not provided [RCV002210851] | Chr17:68307508 [GRCh38] Chr17:66303649 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1572C>T (p.Ala524=) | single nucleotide variant | not provided [RCV002197767] | Chr17:68420457 [GRCh38] Chr17:66416598 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1512T>C (p.Thr504=) | single nucleotide variant | not provided [RCV002198136] | Chr17:68420397 [GRCh38] Chr17:66416538 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.704+12C>G | single nucleotide variant | not provided [RCV002189128] | Chr17:68356816 [GRCh38] Chr17:66352957 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.406+15C>T | single nucleotide variant | not provided [RCV002073928] | Chr17:68343806 [GRCh38] Chr17:66339947 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.759C>T (p.Pro253=) | single nucleotide variant | not provided [RCV002147958] | Chr17:68368602 [GRCh38] Chr17:66364743 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1122C>T (p.Ala374=) | single nucleotide variant | not provided [RCV002089412] | Chr17:68395103 [GRCh38] Chr17:66391244 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1386C>T (p.Thr462=) | single nucleotide variant | not provided [RCV002101993] | Chr17:68420271 [GRCh38] Chr17:66416412 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.753C>T (p.His251=) | single nucleotide variant | not provided [RCV002206107] | Chr17:68368596 [GRCh38] Chr17:66364737 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.390C>T (p.Tyr130=) | single nucleotide variant | not provided [RCV002210795] | Chr17:68343775 [GRCh38] Chr17:66339916 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1242T>C (p.Ala414=) | single nucleotide variant | not provided [RCV002189779] | Chr17:68401389 [GRCh38] Chr17:66397530 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1464C>T (p.Asp488=) | single nucleotide variant | not provided [RCV002164014] | Chr17:68420349 [GRCh38] Chr17:66416490 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.438T>C (p.Tyr146=) | single nucleotide variant | not provided [RCV002086715] | Chr17:68347156 [GRCh38] Chr17:66343297 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1360C>T (p.Leu454=) | single nucleotide variant | not provided [RCV002173452] | Chr17:68420245 [GRCh38] Chr17:66416386 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.219-17C>T | single nucleotide variant | not provided [RCV002144949] | Chr17:68343587 [GRCh38] Chr17:66339728 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.477C>T (p.Ile159=) | single nucleotide variant | not provided [RCV002168855] | Chr17:68351597 [GRCh38] Chr17:66347738 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1176C>T (p.Ser392=) | single nucleotide variant | not provided [RCV002206838] | Chr17:68395157 [GRCh38] Chr17:66391298 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.406+9G>A | single nucleotide variant | not provided [RCV002148494] | Chr17:68343800 [GRCh38] Chr17:66339941 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.982+20T>C | single nucleotide variant | not provided [RCV002190249] | Chr17:68370544 [GRCh38] Chr17:66366685 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.576A>G (p.Gln192=) | single nucleotide variant | not provided [RCV002153483] | Chr17:68356676 [GRCh38] Chr17:66352817 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.218+14T>C | single nucleotide variant | not provided [RCV002151175] | Chr17:68307725 [GRCh38] Chr17:66303866 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.766G>A (p.Val256Met) | single nucleotide variant | not provided [RCV002171721] | Chr17:68368609 [GRCh38] Chr17:66364750 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.186C>A (p.Ala62=) | single nucleotide variant | not provided [RCV002195891] | Chr17:68307679 [GRCh38] Chr17:66303820 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.882C>T (p.Asn294=) | single nucleotide variant | not provided [RCV002173458] | Chr17:68368725 [GRCh38] Chr17:66364866 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.982+17G>A | single nucleotide variant | not provided [RCV002151644] | Chr17:68370541 [GRCh38] Chr17:66366682 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.441C>T (p.His147=) | single nucleotide variant | not provided [RCV002167748] | Chr17:68347159 [GRCh38] Chr17:66343300 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.507T>C (p.Asp169=) | single nucleotide variant | not provided [RCV002172027] | Chr17:68351627 [GRCh38] Chr17:66347768 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.48A>C (p.Ser16=) | single nucleotide variant | not provided [RCV002099462] | Chr17:68307541 [GRCh38] Chr17:66303682 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.954C>G (p.Pro318=) | single nucleotide variant | not provided [RCV002182786] | Chr17:68370496 [GRCh38] Chr17:66366637 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.180C>T (p.Asp60=) | single nucleotide variant | not provided [RCV002161524] | Chr17:68307673 [GRCh38] Chr17:66303814 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.300T>C (p.Asn100=) | single nucleotide variant | not provided [RCV002154362] | Chr17:68343685 [GRCh38] Chr17:66339826 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1303+20G>A | single nucleotide variant | not provided [RCV002163977] | Chr17:68401470 [GRCh38] Chr17:66397611 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.567-17C>T | single nucleotide variant | not provided [RCV002100499] | Chr17:68356650 [GRCh38] Chr17:66352791 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1032A>G (p.Pro344=) | single nucleotide variant | not provided [RCV002100837] | Chr17:68385113 [GRCh38] Chr17:66381254 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1272C>T (p.Arg424=) | single nucleotide variant | not provided [RCV002123172] | Chr17:68401419 [GRCh38] Chr17:66397560 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.705-16G>C | single nucleotide variant | not provided [RCV002156766] | Chr17:68368532 [GRCh38] Chr17:66364673 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.48A>G (p.Ser16=) | single nucleotide variant | not provided [RCV002099341] | Chr17:68307541 [GRCh38] Chr17:66303682 [GRCh37] Chr17:17q24.2 |
likely benign |
NC_000017.10:g.(?_66352788)_(66352965_?)del | deletion | not provided [RCV003119465] | Chr17:66352788..66352965 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NC_000017.10:g.(?_66364669)_(66364905_?)dup | duplication | not provided [RCV003119466] | Chr17:66364669..66364905 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.982+1G>C | single nucleotide variant | Usher syndrome, type 4 [RCV002284019] | Chr17:68370525 [GRCh38] Chr17:66366666 [GRCh37] Chr17:17q24.2 |
likely pathogenic |
NM_001267727.2(ARSG):c.331G>A (p.Val111Met) | single nucleotide variant | not provided [RCV002299301] | Chr17:68343716 [GRCh38] Chr17:66339857 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.931C>T (p.Pro311Ser) | single nucleotide variant | Inborn genetic diseases [RCV002752359] | Chr17:68271229 [GRCh38] Chr17:66267370 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.98G>A (p.Gly33Glu) | single nucleotide variant | Inborn genetic diseases [RCV002837309] | Chr17:68307591 [GRCh38] Chr17:66303732 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.676C>G (p.Leu226Val) | single nucleotide variant | Inborn genetic diseases [RCV002773318] | Chr17:68271484 [GRCh38] Chr17:66267625 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1310C>T (p.Ala437Val) | single nucleotide variant | Inborn genetic diseases [RCV003274022]|not provided [RCV002751358] | Chr17:68420195 [GRCh38] Chr17:66416336 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.594C>T (p.Asp198=) | single nucleotide variant | not provided [RCV002613926] | Chr17:68356694 [GRCh38] Chr17:66352835 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1574C>T (p.Ala525Val) | single nucleotide variant | not provided [RCV002970921] | Chr17:68420459 [GRCh38] Chr17:66416600 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys) | single nucleotide variant | Inborn genetic diseases [RCV002818866] | Chr17:68435625 [GRCh38] Chr17:66431766 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.901+2T>C | single nucleotide variant | not provided [RCV002618881] | Chr17:68368746 [GRCh38] Chr17:66364887 [GRCh37] Chr17:17q24.2 |
likely pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.1303+1G>A | single nucleotide variant | not provided [RCV003016228] | Chr17:68401451 [GRCh38] Chr17:66397592 [GRCh37] Chr17:17q24.2 |
uncertain significance |
GRCh37/hg19 17q24.2(chr17:66075889-66268460)x1 | copy number loss | not provided [RCV002475878] | Chr17:66075889..66268460 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.454+1G>A | single nucleotide variant | not provided [RCV003034765] | Chr17:68347173 [GRCh38] Chr17:66343314 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1024C>T (p.Arg342Trp) | single nucleotide variant | Usher syndrome, type 4 [RCV003322635]|not provided [RCV002636221] | Chr17:68385105 [GRCh38] Chr17:66381246 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala) | single nucleotide variant | Inborn genetic diseases [RCV002882864] | Chr17:68433475 [GRCh38] Chr17:66429616 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1212+11G>A | single nucleotide variant | not provided [RCV002815308] | Chr17:68395204 [GRCh38] Chr17:66391345 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.982+7G>T | single nucleotide variant | not provided [RCV003033682] | Chr17:68370531 [GRCh38] Chr17:66366672 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1573G>C (p.Ala525Pro) | single nucleotide variant | not provided [RCV002994180] | Chr17:68420458 [GRCh38] Chr17:66416599 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.901+18A>G | single nucleotide variant | not provided [RCV003014840] | Chr17:68368762 [GRCh38] Chr17:66364903 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1406A>G (p.Glu469Gly) | single nucleotide variant | not provided [RCV002816283] | Chr17:68420291 [GRCh38] Chr17:66416432 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys) | single nucleotide variant | Inborn genetic diseases [RCV002688132] | Chr17:68430039 [GRCh38] Chr17:66426180 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.432C>T (p.Gly144=) | single nucleotide variant | not provided [RCV002617331] | Chr17:68347150 [GRCh38] Chr17:66343291 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1129C>G (p.Gln377Glu) | single nucleotide variant | not provided [RCV002614721] | Chr17:68395110 [GRCh38] Chr17:66391251 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.37G>A (p.Val13Met) | single nucleotide variant | not provided [RCV003013412] | Chr17:68307530 [GRCh38] Chr17:66303671 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1025G>T (p.Arg342Leu) | single nucleotide variant | not provided [RCV002994250] | Chr17:68385106 [GRCh38] Chr17:66381247 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1303+12G>C | single nucleotide variant | not provided [RCV002972453] | Chr17:68401462 [GRCh38] Chr17:66397603 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.590C>T (p.Thr197Ile) | single nucleotide variant | not provided [RCV002685472] | Chr17:68356690 [GRCh38] Chr17:66352831 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.484G>A (p.Ala162Thr) | single nucleotide variant | Inborn genetic diseases [RCV002684159] | Chr17:68272660 [GRCh38] Chr17:66268801 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1212+16A>G | single nucleotide variant | not provided [RCV002815939] | Chr17:68395209 [GRCh38] Chr17:66391350 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_004694.5(SLC16A6):c.38A>G (p.Asn13Ser) | single nucleotide variant | Inborn genetic diseases [RCV002753929] | Chr17:68278283 [GRCh38] Chr17:66274424 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.983-19_983-18delinsTT | indel | not provided [RCV003017131] | Chr17:68385045..68385046 [GRCh38] Chr17:66381186..66381187 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.986G>A (p.Gly329Glu) | single nucleotide variant | not provided [RCV002615330] | Chr17:68385067 [GRCh38] Chr17:66381208 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu) | single nucleotide variant | Inborn genetic diseases [RCV002869003] | Chr17:68428856 [GRCh38] Chr17:66424997 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.577A>G (p.Ile193Val) | single nucleotide variant | Inborn genetic diseases [RCV002951574] | Chr17:68271583 [GRCh38] Chr17:66267724 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.695G>A (p.Arg232Gln) | single nucleotide variant | Inborn genetic diseases [RCV002707175] | Chr17:68271465 [GRCh38] Chr17:66267606 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.627T>C (p.Ile209=) | single nucleotide variant | not provided [RCV003035951] | Chr17:68356727 [GRCh38] Chr17:66352868 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.977G>T (p.Arg326Leu) | single nucleotide variant | not provided [RCV002695080] | Chr17:68370519 [GRCh38] Chr17:66366660 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.939G>A (p.Ala313=) | single nucleotide variant | not provided [RCV002621407] | Chr17:68370481 [GRCh38] Chr17:66366622 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.231C>T (p.Phe77=) | single nucleotide variant | not provided [RCV002760812] | Chr17:68343616 [GRCh38] Chr17:66339757 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1092-4G>C | single nucleotide variant | not provided [RCV003038086] | Chr17:68395069 [GRCh38] Chr17:66391210 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.176A>T (p.Lys59Met) | single nucleotide variant | not provided [RCV002797198] | Chr17:68307669 [GRCh38] Chr17:66303810 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.492T>C (p.Asp164=) | single nucleotide variant | not provided [RCV002976212] | Chr17:68351612 [GRCh38] Chr17:66347753 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.415C>A (p.His139Asn) | single nucleotide variant | not provided [RCV003019487] | Chr17:68347133 [GRCh38] Chr17:66343274 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys) | single nucleotide variant | Inborn genetic diseases [RCV002694597] | Chr17:68433508 [GRCh38] Chr17:66429649 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1303+15A>G | single nucleotide variant | not provided [RCV003021023] | Chr17:68401465 [GRCh38] Chr17:66397606 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.233A>G (p.His78Arg) | single nucleotide variant | not provided [RCV003100408] | Chr17:68343618 [GRCh38] Chr17:66339759 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.189C>T (p.Asn63=) | single nucleotide variant | not provided [RCV002796453] | Chr17:68307682 [GRCh38] Chr17:66303823 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1316C>T (p.Ala439Val) | single nucleotide variant | not provided [RCV003018214] | Chr17:68420201 [GRCh38] Chr17:66416342 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1519C>A (p.Pro507Thr) | single nucleotide variant | not provided [RCV003053549] | Chr17:68420404 [GRCh38] Chr17:66416545 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.758C>T (p.Pro253Leu) | single nucleotide variant | not provided [RCV003054232] | Chr17:68368601 [GRCh38] Chr17:66364742 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.46T>C (p.Ser16Pro) | single nucleotide variant | not provided [RCV003018921] | Chr17:68307539 [GRCh38] Chr17:66303680 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1518C>A (p.Asp506Glu) | single nucleotide variant | not provided [RCV003021420] | Chr17:68420403 [GRCh38] Chr17:66416544 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.294T>G (p.Leu98=) | single nucleotide variant | not provided [RCV003019767] | Chr17:68343679 [GRCh38] Chr17:66339820 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_004694.5(SLC16A6):c.265G>A (p.Gly89Arg) | single nucleotide variant | Inborn genetic diseases [RCV002846028] | Chr17:68274038 [GRCh38] Chr17:66270179 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1038G>T (p.Leu346=) | single nucleotide variant | not provided [RCV003054618] | Chr17:68385119 [GRCh38] Chr17:66381260 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.163T>C (p.Trp55Arg) | single nucleotide variant | not provided [RCV002700676] | Chr17:68307656 [GRCh38] Chr17:66303797 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.339C>G (p.Gly113=) | single nucleotide variant | not provided [RCV002928938] | Chr17:68343724 [GRCh38] Chr17:66339865 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.278C>T (p.Thr93Ile) | single nucleotide variant | not provided [RCV002666920] | Chr17:68343663 [GRCh38] Chr17:66339804 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1153C>T (p.Arg385Cys) | single nucleotide variant | not provided [RCV002932287] | Chr17:68395134 [GRCh38] Chr17:66391275 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.23T>C (p.Val8Ala) | single nucleotide variant | not provided [RCV002829555] | Chr17:68307516 [GRCh38] Chr17:66303657 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.59A>T (p.Tyr20Phe) | single nucleotide variant | not provided [RCV002894103] | Chr17:68307552 [GRCh38] Chr17:66303693 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs) | deletion | Usher syndrome, type 4 [RCV002790020] | Chr17:68356762..68356763 [GRCh38] Chr17:66352903..66352904 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1467C>T (p.Val489=) | single nucleotide variant | not provided [RCV002928913] | Chr17:68420352 [GRCh38] Chr17:66416493 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.281G>A (p.Gly94Asp) | single nucleotide variant | not provided [RCV002828615] | Chr17:68343666 [GRCh38] Chr17:66339807 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.286C>T (p.Leu96Phe) | single nucleotide variant | not provided [RCV003024481] | Chr17:68343671 [GRCh38] Chr17:66339812 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1044C>T (p.Tyr348=) | single nucleotide variant | not provided [RCV002740940] | Chr17:68385125 [GRCh38] Chr17:66381266 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.532T>C (p.Cys178Arg) | single nucleotide variant | not provided [RCV003057938] | Chr17:68351652 [GRCh38] Chr17:66347793 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.734C>T (p.Thr245Ile) | single nucleotide variant | Inborn genetic diseases [RCV002803652] | Chr17:68271426 [GRCh38] Chr17:66267567 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile) | single nucleotide variant | Inborn genetic diseases [RCV002763381] | Chr17:68430044 [GRCh38] Chr17:66426185 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.567-14T>C | single nucleotide variant | not provided [RCV002701360] | Chr17:68356653 [GRCh38] Chr17:66352794 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.808G>A (p.Gly270Ser) | single nucleotide variant | not provided [RCV002890823] | Chr17:68368651 [GRCh38] Chr17:66364792 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.267T>A (p.Ala89=) | single nucleotide variant | not provided [RCV002642247] | Chr17:68343652 [GRCh38] Chr17:66339793 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.455G>C (p.Gly152Ala) | single nucleotide variant | not provided [RCV003059385] | Chr17:68351575 [GRCh38] Chr17:66347716 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1564T>C (p.Cys522Arg) | single nucleotide variant | not provided [RCV002801547] | Chr17:68420449 [GRCh38] Chr17:66416590 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn) | single nucleotide variant | Inborn genetic diseases [RCV002916465] | Chr17:68430129 [GRCh38] Chr17:66426270 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.794G>T (p.Gly265Val) | single nucleotide variant | not provided [RCV002626889] | Chr17:68368637 [GRCh38] Chr17:66364778 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.901+6G>A | single nucleotide variant | not provided [RCV002828840] | Chr17:68368750 [GRCh38] Chr17:66364891 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.129C>T (p.Ala43=) | single nucleotide variant | not provided [RCV002594822] | Chr17:68307622 [GRCh38] Chr17:66303763 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_004694.5(SLC16A6):c.85G>A (p.Val29Ile) | single nucleotide variant | Inborn genetic diseases [RCV002826287] | Chr17:68278236 [GRCh38] Chr17:66274377 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala) | single nucleotide variant | Inborn genetic diseases [RCV002767812] | Chr17:68434599 [GRCh38] Chr17:66430740 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.983-6T>C | single nucleotide variant | not provided [RCV002671778] | Chr17:68385058 [GRCh38] Chr17:66381199 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1148G>A (p.Gly383Glu) | single nucleotide variant | not provided [RCV003031687] | Chr17:68395129 [GRCh38] Chr17:66391270 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1170C>T (p.Asp390=) | single nucleotide variant | not provided [RCV003065124] | Chr17:68395151 [GRCh38] Chr17:66391292 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1440C>G (p.Pro480=) | single nucleotide variant | not provided [RCV002581927] | Chr17:68420325 [GRCh38] Chr17:66416466 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.583T>A (p.Cys195Ser) | single nucleotide variant | not provided [RCV002933545] | Chr17:68356683 [GRCh38] Chr17:66352824 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.704+11T>C | single nucleotide variant | not provided [RCV002715311] | Chr17:68356815 [GRCh38] Chr17:66352956 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.983-2A>G | single nucleotide variant | not provided [RCV002715762] | Chr17:68385062 [GRCh38] Chr17:66381203 [GRCh37] Chr17:17q24.2 |
pathogenic|uncertain significance |
NM_001267727.2(ARSG):c.907A>C (p.Asn303His) | single nucleotide variant | not provided [RCV002810438] | Chr17:68370449 [GRCh38] Chr17:66366590 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.397G>A (p.Gly133Arg) | single nucleotide variant | not provided [RCV002899583] | Chr17:68343782 [GRCh38] Chr17:66339923 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.983-8T>G | single nucleotide variant | not provided [RCV002646695] | Chr17:68385056 [GRCh38] Chr17:66381197 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.9G>C (p.Trp3Cys) | single nucleotide variant | not provided [RCV002716028] | Chr17:68307502 [GRCh38] Chr17:66303643 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.1552G>A (p.Val518Met) | single nucleotide variant | Inborn genetic diseases [RCV002897926] | Chr17:68269116 [GRCh38] Chr17:66265257 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.406+12C>A | single nucleotide variant | not provided [RCV002715839] | Chr17:68343803 [GRCh38] Chr17:66339944 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1303+5G>T | single nucleotide variant | not provided [RCV003027708] | Chr17:68401455 [GRCh38] Chr17:66397596 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.983-12del | deletion | not provided [RCV002646584] | Chr17:68385049 [GRCh38] Chr17:66381190 [GRCh37] Chr17:17q24.2 |
benign |
NM_001267727.2(ARSG):c.1561C>T (p.Arg521Cys) | single nucleotide variant | not provided [RCV002597558] | Chr17:68420446 [GRCh38] Chr17:66416587 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1332G>A (p.Thr444=) | single nucleotide variant | not provided [RCV002601662] | Chr17:68420217 [GRCh38] Chr17:66416358 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1145_1146del (p.Gln382fs) | deletion | not provided [RCV002807129] | Chr17:68395126..68395127 [GRCh38] Chr17:66391267..66391268 [GRCh37] Chr17:17q24.2 |
pathogenic|likely pathogenic |
NM_001267727.2(ARSG):c.886T>C (p.Phe296Leu) | single nucleotide variant | not provided [RCV002675480] | Chr17:68368729 [GRCh38] Chr17:66364870 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1452G>C (p.Lys484Asn) | single nucleotide variant | not provided [RCV002720111] | Chr17:68420337 [GRCh38] Chr17:66416478 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.904C>A (p.Leu302Ile) | single nucleotide variant | Inborn genetic diseases [RCV002900799] | Chr17:68271256 [GRCh38] Chr17:66267397 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1167G>A (p.Val389=) | single nucleotide variant | not provided [RCV003087664] | Chr17:68395148 [GRCh38] Chr17:66391289 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002921153] | Chr17:68428833 [GRCh38] Chr17:66424974 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1276G>T (p.Glu426Ter) | single nucleotide variant | not provided [RCV002833825] | Chr17:68401423 [GRCh38] Chr17:66397564 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.1310C>T (p.Pro437Leu) | single nucleotide variant | Inborn genetic diseases [RCV002718800] | Chr17:68270850 [GRCh38] Chr17:66266991 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.654C>T (p.Ser218=) | single nucleotide variant | not provided [RCV002646739] | Chr17:68356754 [GRCh38] Chr17:66352895 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.137T>C (p.Met46Thr) | single nucleotide variant | Inborn genetic diseases [RCV002921633] | Chr17:68307630 [GRCh38] Chr17:66303771 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.705-19C>G | single nucleotide variant | not provided [RCV002582970] | Chr17:68368529 [GRCh38] Chr17:66364670 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.383C>T (p.Ala128Val) | single nucleotide variant | not provided [RCV002654159] | Chr17:68343768 [GRCh38] Chr17:66339909 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.407-16_407-15del | deletion | not provided [RCV002721914] | Chr17:68347109..68347110 [GRCh38] Chr17:66343250..66343251 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.914C>T (p.Pro305Leu) | single nucleotide variant | not provided [RCV002586955] | Chr17:68370456 [GRCh38] Chr17:66366597 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.429C>T (p.His143=) | single nucleotide variant | not provided [RCV002604535] | Chr17:68347147 [GRCh38] Chr17:66343288 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.135C>T (p.Asp45=) | single nucleotide variant | not provided [RCV002587041] | Chr17:68307628 [GRCh38] Chr17:66303769 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.854A>G (p.Asp285Gly) | single nucleotide variant | not provided [RCV002635175] | Chr17:68368697 [GRCh38] Chr17:66364838 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1490A>C (p.Asn497Thr) | single nucleotide variant | not provided [RCV002589981] | Chr17:68420375 [GRCh38] Chr17:66416516 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro) | single nucleotide variant | Usher syndrome, type 4 [RCV003322647] | Chr17:68343660 [GRCh38] Chr17:66339801 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter) | single nucleotide variant | Usher syndrome, type 4 [RCV003322648] | Chr17:68356688 [GRCh38] Chr17:66352829 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.1212+1G>A | single nucleotide variant | Usher syndrome, type 4 [RCV003322646] | Chr17:68395194 [GRCh38] Chr17:66391335 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.705-3940_982+2952del | deletion | Usher syndrome, type 4 [RCV003322649] | Chr17:68364558..68373426 [GRCh38] Chr17:66360699..66369567 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu) | single nucleotide variant | Inborn genetic diseases [RCV003340113] | Chr17:68430114 [GRCh38] Chr17:66426255 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.179A>G (p.Asn60Ser) | single nucleotide variant | Inborn genetic diseases [RCV003359777] | Chr17:68278142 [GRCh38] Chr17:66274283 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_004694.5(SLC16A6):c.944T>G (p.Ile315Ser) | single nucleotide variant | Inborn genetic diseases [RCV003379495] | Chr17:68271216 [GRCh38] Chr17:66267357 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln) | single nucleotide variant | Inborn genetic diseases [RCV003374348] | Chr17:68426148 [GRCh38] Chr17:66422289 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1429G>C (p.Ala477Pro) | single nucleotide variant | not provided [RCV003675450] | Chr17:68420314 [GRCh38] Chr17:66416455 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1413_1429del (p.Gly472fs) | deletion | not provided [RCV003686867] | Chr17:68420295..68420311 [GRCh38] Chr17:66416436..66416452 [GRCh37] Chr17:17q24.2 |
uncertain significance |
NM_001267727.2(ARSG):c.1304-6C>T | single nucleotide variant | not provided [RCV003681720] | Chr17:68420183 [GRCh38] Chr17:66416324 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1395T>C (p.Ala465=) | single nucleotide variant | not provided [RCV003693618] | Chr17:68420280 [GRCh38] Chr17:66416421 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_004694.5(SLC16A6):c.549C>T (p.Leu183=) | single nucleotide variant | not provided [RCV003421442] | Chr17:68271611 [GRCh38] Chr17:66267752 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.1213-16T>C | single nucleotide variant | not provided [RCV003572450] | Chr17:68401344 [GRCh38] Chr17:66397485 [GRCh37] Chr17:17q24.2 |
likely benign |
NM_001267727.2(ARSG):c.829dup (p.Asp277fs) | duplication | not provided [RCV003689787] | Chr17:68368670..68368671 [GRCh38] Chr17:66364811..66364812 [GRCh37] Chr17:17q24.2 |
pathogenic |
NM_001267727.2(ARSG):c.902-6T>G | single nucleotide variant | not provided [RCV003544040] | Chr17:68370438 [GRCh38] Chr17:66366579 [GRCh37] Chr17:17q24.2 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
STS-N51941 |
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RH80612 |
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RH102108 |
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D17S694 |
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SLC16A6_835 |
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G19285 |
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STS-N33189 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 7 | 94 | 29 | 1 | 126 | 1 | 50 | 5 | 64 | 8 | 46 | 26 | 1 | 16 | ||
Low | 2410 | 2839 | 1669 | 596 | 1819 | 438 | 4284 | 2119 | 3558 | 408 | 1398 | 1575 | 169 | 1203 | 2755 | 4 |
Below cutoff | 15 | 51 | 25 | 25 | 4 | 25 | 21 | 69 | 89 | 2 | 4 | 7 | 1 | 17 |
RefSeq Transcripts | NG_032814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001267727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352905 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001352910 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_014960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011524536 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011524537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011524546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017024360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017024365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017024368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435633 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435644 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435653 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435654 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315507 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315511 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315512 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315515 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_007065287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008484799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB023218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC005332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC007780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX206961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG700864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM664718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA308403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000448504 ⟹ ENSP00000407193 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000452479 ⟹ ENSP00000413953 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000578554 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000578726 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000581032 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000581639 ⟹ ENSP00000462306 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000582154 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000590690 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000621439 ⟹ ENSP00000480910 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001267727 ⟹ NP_001254656 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352899 ⟹ NP_001339828 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352900 ⟹ NP_001339829 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352901 ⟹ NP_001339830 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352902 ⟹ NP_001339831 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352903 ⟹ NP_001339832 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352904 ⟹ NP_001339833 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352905 ⟹ NP_001339834 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352906 ⟹ NP_001339835 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352907 ⟹ NP_001339836 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352909 ⟹ NP_001339838 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001352910 ⟹ NP_001339839 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_014960 ⟹ NP_055775 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011524536 ⟹ XP_011522838 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011524537 ⟹ XP_011522839 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011524546 ⟹ XP_011522848 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017024360 ⟹ XP_016879849 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017024365 ⟹ XP_016879854 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017024368 ⟹ XP_016879857 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047435632 ⟹ XP_047291588 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435633 ⟹ XP_047291589 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435634 ⟹ XP_047291590 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435635 ⟹ XP_047291591 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435636 ⟹ XP_047291592 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435637 ⟹ XP_047291593 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435638 ⟹ XP_047291594 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435639 ⟹ XP_047291595 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435640 ⟹ XP_047291596 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435641 ⟹ XP_047291597 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435642 ⟹ XP_047291598 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435643 ⟹ XP_047291599 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435644 ⟹ XP_047291600 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435645 ⟹ XP_047291601 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435646 ⟹ XP_047291602 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435647 ⟹ XP_047291603 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435648 ⟹ XP_047291604 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435649 ⟹ XP_047291605 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435650 ⟹ XP_047291606 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435651 ⟹ XP_047291607 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435652 ⟹ XP_047291608 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435653 ⟹ XP_047291609 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435654 ⟹ XP_047291610 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435655 ⟹ XP_047291611 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315498 ⟹ XP_054171473 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315499 ⟹ XP_054171474 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315500 ⟹ XP_054171475 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315501 ⟹ XP_054171476 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315502 ⟹ XP_054171477 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315503 ⟹ XP_054171478 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315504 ⟹ XP_054171479 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315505 ⟹ XP_054171480 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315506 ⟹ XP_054171481 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315507 ⟹ XP_054171482 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315508 ⟹ XP_054171483 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315509 ⟹ XP_054171484 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315510 ⟹ XP_054171485 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315511 ⟹ XP_054171486 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315512 ⟹ XP_054171487 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315513 ⟹ XP_054171488 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315514 ⟹ XP_054171489 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315515 ⟹ XP_054171490 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315516 ⟹ XP_054171491 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315517 ⟹ XP_054171492 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315518 ⟹ XP_054171493 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315519 ⟹ XP_054171494 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315520 ⟹ XP_054171495 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315521 ⟹ XP_054171496 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315522 ⟹ XP_054171497 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315523 ⟹ XP_054171498 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315524 ⟹ XP_054171499 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315525 ⟹ XP_054171500 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315526 ⟹ XP_054171501 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007065287 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008484799 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001254656 | (Get FASTA) | NCBI Sequence Viewer |
NP_001339828 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339829 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339830 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339831 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339832 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339833 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339834 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339835 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339836 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339838 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001339839 | (Get FASTA) | NCBI Sequence Viewer | |
NP_055775 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011522838 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011522839 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011522848 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016879849 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016879854 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016879857 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291588 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291589 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291590 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291591 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291592 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291593 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291594 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291595 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291596 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291597 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291598 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291599 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291600 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291601 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291602 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291603 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291604 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291605 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291606 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291607 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291608 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291609 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291610 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291611 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171473 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171474 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171475 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171476 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171477 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171478 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171479 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171480 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171481 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171482 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171483 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171484 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171485 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171486 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171487 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171488 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171489 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171490 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171491 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171492 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171493 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171494 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171495 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171496 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171497 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171498 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171499 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171500 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171501 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH12375 | (Get FASTA) | NCBI Sequence Viewer |
AAQ88746 | (Get FASTA) | NCBI Sequence Viewer | |
BAA76845 | (Get FASTA) | NCBI Sequence Viewer | |
CAC60188 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89055 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89056 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000407193 | ||
ENSP00000407193.2 | |||
ENSP00000413953 | |||
ENSP00000413953.2 | |||
ENSP00000480910 | |||
ENSP00000480910.1 | |||
GenBank Protein | Q96EG1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055775 ⟸ NM_014960 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot), Q96EG1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001254656 ⟸ NM_001267727 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot), Q96EG1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011522838 ⟸ XM_011524536 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011522839 ⟸ XM_011524537 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011522848 ⟸ XM_011524546 |
- Peptide Label: | isoform X12 |
- Sequence: |
RefSeq Acc Id: | XP_016879857 ⟸ XM_017024368 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_016879849 ⟸ XM_017024360 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016879854 ⟸ XM_017024365 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot), Q96EG1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001339833 ⟸ NM_001352904 |
- Peptide Label: | isoform 2 precursor |
- Sequence: |
RefSeq Acc Id: | NP_001339832 ⟸ NM_001352903 |
- Peptide Label: | isoform 2 precursor |
- Sequence: |
RefSeq Acc Id: | NP_001339839 ⟸ NM_001352910 |
- Peptide Label: | isoform 4 precursor |
- Sequence: |
RefSeq Acc Id: | NP_001339834 ⟸ NM_001352905 |
- Peptide Label: | isoform 2 precursor |
- Sequence: |
RefSeq Acc Id: | NP_001339838 ⟸ NM_001352909 |
- Peptide Label: | isoform 3 |
- Sequence: |
RefSeq Acc Id: | NP_001339828 ⟸ NM_001352899 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001339835 ⟸ NM_001352906 |
- Peptide Label: | isoform 2 precursor |
- Sequence: |
RefSeq Acc Id: | NP_001339829 ⟸ NM_001352900 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001339836 ⟸ NM_001352907 |
- Peptide Label: | isoform 2 precursor |
- Sequence: |
RefSeq Acc Id: | NP_001339831 ⟸ NM_001352902 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001339830 ⟸ NM_001352901 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000462306 ⟸ ENST00000581639 |
RefSeq Acc Id: | ENSP00000480910 ⟸ ENST00000621439 |
RefSeq Acc Id: | ENSP00000413953 ⟸ ENST00000452479 |
RefSeq Acc Id: | ENSP00000407193 ⟸ ENST00000448504 |
RefSeq Acc Id: | XP_047291600 ⟸ XM_047435644 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_047291603 ⟸ XM_047435647 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_047291601 ⟸ XM_047435645 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_047291595 ⟸ XM_047435639 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047291588 ⟸ XM_047435632 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047291605 ⟸ XM_047435649 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047291609 ⟸ XM_047435653 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_047291611 ⟸ XM_047435655 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_047291599 ⟸ XM_047435643 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_047291590 ⟸ XM_047435634 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047291593 ⟸ XM_047435637 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047291598 ⟸ XM_047435642 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_047291589 ⟸ XM_047435633 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047291592 ⟸ XM_047435636 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047291597 ⟸ XM_047435641 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047291607 ⟸ XM_047435651 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_047291608 ⟸ XM_047435652 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_047291596 ⟸ XM_047435640 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047291604 ⟸ XM_047435648 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047291610 ⟸ XM_047435654 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_047291602 ⟸ XM_047435646 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_047291591 ⟸ XM_047435635 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047291594 ⟸ XM_047435638 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047291606 ⟸ XM_047435650 |
- Peptide Label: | isoform X9 |
- UniProtKB: | J9JIG6 (UniProtKB/TrEMBL), B4DQ74 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054171488 ⟸ XM_054315513 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054171492 ⟸ XM_054315517 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054171489 ⟸ XM_054315514 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054171482 ⟸ XM_054315507 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054171474 ⟸ XM_054315499 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171493 ⟸ XM_054315518 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054171499 ⟸ XM_054315524 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_054171501 ⟸ XM_054315526 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_054171487 ⟸ XM_054315512 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054171478 ⟸ XM_054315503 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171481 ⟸ XM_054315506 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054171486 ⟸ XM_054315511 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054171477 ⟸ XM_054315502 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171476 ⟸ XM_054315501 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171473 ⟸ XM_054315498 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171491 ⟸ XM_054315516 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054171480 ⟸ XM_054315505 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054171485 ⟸ XM_054315510 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054171496 ⟸ XM_054315521 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_054171497 ⟸ XM_054315522 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_054171484 ⟸ XM_054315509 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054171475 ⟸ XM_054315500 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171494 ⟸ XM_054315519 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054171500 ⟸ XM_054315525 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_054171490 ⟸ XM_054315515 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054171479 ⟸ XM_054315504 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171483 ⟸ XM_054315508 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q96EG1 (UniProtKB/Swiss-Prot), Q6UXF2 (UniProtKB/Swiss-Prot), Q9Y2K4 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054171495 ⟸ XM_054315520 |
- Peptide Label: | isoform X9 |
- UniProtKB: | J9JIG6 (UniProtKB/TrEMBL), B4DQ74 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054171498 ⟸ XM_054315523 |
- Peptide Label: | isoform X12 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96EG1-F1-model_v2 | AlphaFold | Q96EG1 | 1-525 | view protein structure |
RGD ID: | 7236113 | ||||||||
Promoter ID: | EPDNEW_H23801 | ||||||||
Type: | initiation region | ||||||||
Name: | ARSG_1 | ||||||||
Description: | arylsulfatase G | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23805 EPDNEW_H23806 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7236119 | ||||||||
Promoter ID: | EPDNEW_H23805 | ||||||||
Type: | initiation region | ||||||||
Name: | ARSG_2 | ||||||||
Description: | arylsulfatase G | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23801 EPDNEW_H23806 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7236121 | ||||||||
Promoter ID: | EPDNEW_H23806 | ||||||||
Type: | initiation region | ||||||||
Name: | ARSG_3 | ||||||||
Description: | arylsulfatase G | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23801 EPDNEW_H23805 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:24102 | AgrOrtholog |
COSMIC | ARSG | COSMIC |
Ensembl Genes | ENSG00000141337 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000448504 | ENTREZGENE |
ENST00000448504.6 | UniProtKB/Swiss-Prot | |
ENST00000452479 | ENTREZGENE | |
ENST00000452479.6 | UniProtKB/TrEMBL | |
ENST00000621439 | ENTREZGENE | |
ENST00000621439.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.1120.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.40.720.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000141337 | GTEx |
HGNC ID | HGNC:24102 | ENTREZGENE |
Human Proteome Map | ARSG | Human Proteome Map |
InterPro | Alkaline_phosphatase_core_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Sulfatase_CS | UniProtKB/Swiss-Prot | |
Sulfatase_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:22901 | UniProtKB/Swiss-Prot |
NCBI Gene | 22901 | ENTREZGENE |
OMIM | 610008 | OMIM |
PANTHER | ARYLSULFATASE FAMILY MEMBER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ARYLSULFATASE G-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Sulfatase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Sulfatase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA143485307 | PharmGKB |
PROSITE | SULFATASE_1 | UniProtKB/Swiss-Prot |
SULFATASE_2 | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF53649 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | ARSG_HUMAN | UniProtKB/Swiss-Prot |
B4DQ74 | ENTREZGENE, UniProtKB/TrEMBL | |
J9JIG6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6UXF2 | ENTREZGENE | |
Q96EG1 | ENTREZGENE | |
Q9Y2K4 | ENTREZGENE | |
UniProt Secondary | Q6UXF2 | UniProtKB/Swiss-Prot |
Q9Y2K4 | UniProtKB/Swiss-Prot |