Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | human immunodeficiency virus infectious disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15308739 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | human immunodeficiency virus infectious disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15308739 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7981673 | PMID:8570618 | PMID:8590280 | PMID:10655059 | PMID:11076863 | PMID:11256614 | PMID:11754100 | PMID:11756498 | PMID:12376548 | PMID:12414125 | PMID:12447388 | PMID:12477932 |
PMID:12736724 | PMID:12787561 | PMID:14581471 | PMID:15489336 | PMID:16381901 | PMID:16417406 | PMID:18029348 | PMID:18489790 | PMID:19913121 | PMID:20237496 | PMID:20628086 | PMID:21873635 |
PMID:22009749 | PMID:22751105 | PMID:22965914 | PMID:23182705 | PMID:24043878 | PMID:26344197 | PMID:26702831 | PMID:26707211 | PMID:29117863 | PMID:30021884 | PMID:30958531 | PMID:31753913 |
PMID:32203420 | PMID:32378260 | PMID:33644029 | PMID:33961781 | PMID:34524873 | PMID:35216969 | PMID:36288877 | PMID:36543142 | PMID:37443303 |
ARHGAP4 (Homo sapiens - human) |
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Arhgap4 (Mus musculus - house mouse) |
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Arhgap4 (Rattus norvegicus - Norway rat) |
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Arhgap4 (Chinchilla lanigera - long-tailed chinchilla) |
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ARHGAP4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ARHGAP4 (Canis lupus familiaris - dog) |
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Arhgap4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ARHGAP4 (Sus scrofa - pig) |
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ARHGAP4 (Chlorocebus sabaeus - green monkey) |
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Arhgap4 (Heterocephalus glaber - naked mole-rat) |
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Variants in ARHGAP4
54 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 | copy number gain | See cases [RCV000050946] | ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 | copy number gain | See cases [RCV000050657] | ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 | copy number loss | See cases [RCV000051160] | ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] | ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 | copy number loss | See cases [RCV000051665] | ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 | copy number loss | See cases [RCV000051750] | ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 | copy number loss | See cases [RCV000051666] | ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 | copy number loss | See cases [RCV000051728] | ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 | copy number loss | See cases [RCV000051729] | ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 | copy number loss | See cases [RCV000051713] | ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 | copy number loss | See cases [RCV000051732] | ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] | ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 | copy number gain | See cases [RCV000052525] | ChrX:153769547..154394658 [GRCh38] ChrX:152688196..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 | copy number gain | See cases [RCV000052527] | ChrX:153777340..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152695989..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 | copy number gain | See cases [RCV000052528] | ChrX:153787044..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152705693..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] | ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 | copy number gain | See cases [RCV000052491] | ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 | copy number gain | See cases [RCV000052492] | ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 | copy number gain | See cases [RCV000052445] | ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 | copy number gain | See cases [RCV000052471] | ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 | copy number gain | See cases [RCV000052474] | ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 | copy number gain | See cases [RCV000052475] | ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] | ChrX:153585420..154427385 [GRCh38] ChrX:152864376..153655730 [GRCh37] ChrX:152504072..153308924 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 | copy number gain | See cases [RCV000052522] | ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 | copy number gain | See cases [RCV000052523] | ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] | ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 | copy number loss | See cases [RCV000133818] | ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 | copy number gain | See cases [RCV000133725] | ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 | copy number gain | See cases [RCV000133744] | ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 | copy number loss | See cases [RCV000134570] | ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 | copy number gain | See cases [RCV000134025] | ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 | copy number loss | See cases [RCV000135300] | ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 | copy number loss | See cases [RCV000135307] | ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 | copy number loss | See cases [RCV000134958] | ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 | copy number loss | See cases [RCV000134947] | ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 | copy number gain | See cases [RCV000135840] | ChrX:153855152..154092314 [GRCh38] ChrX:152773801..153010966 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 | copy number gain | See cases [RCV000135451] | ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 | copy number loss | See cases [RCV000135454] | ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 | copy number gain | See cases [RCV000136552] | ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 | copy number gain | See cases [RCV000136030] | ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 | copy number loss | See cases [RCV000136095] | ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 | copy number gain | See cases [RCV000135881] | ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 | copy number loss | See cases [RCV000136083] | ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 | copy number loss | See cases [RCV000136912] | ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 | copy number loss | See cases [RCV000137113] | ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 | copy number gain | See cases [RCV000136716] | ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 | copy number loss | See cases [RCV000136718] | ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 | copy number gain | See cases [RCV000136791] | ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 | copy number gain | See cases [RCV000137498] | ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 | copy number gain | See cases [RCV000137536] | ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 | copy number gain | See cases [RCV000137553] | ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 | copy number loss | See cases [RCV000137415] | ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 | copy number gain | See cases [RCV000137153] | ChrX:153813894..154140759 [GRCh38] ChrX:152732543..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 | copy number loss | See cases [RCV000137257] | ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 | copy number loss | See cases [RCV000137167] | ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 | copy number loss | See cases [RCV000137138] | ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 | copy number gain | See cases [RCV000138020] | ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 | copy number loss | See cases [RCV000137887] | ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 | copy number loss | See cases [RCV000138679] | ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 | copy number loss | See cases [RCV000138787] | ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 | copy number gain | See cases [RCV000138393] | ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 | copy number loss | See cases [RCV000138541] | ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 | copy number loss | See cases [RCV000139351] | ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 | copy number loss | See cases [RCV000139400] | ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 | copy number gain | See cases [RCV000140524] | ChrX:153813894..154383071 [GRCh38] ChrX:153079349..153611431 [GRCh37] ChrX:152732543..153264625 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 | copy number gain | See cases [RCV000140532] | ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 | copy number gain | See cases [RCV000140537] | ChrX:153802827..154294817 [GRCh38] ChrX:153068282..153523170 [GRCh37] ChrX:152721476..153176364 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 | copy number loss | See cases [RCV000139724] | ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 | copy number loss | See cases [RCV000141825] | ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 | copy number loss | See cases [RCV000142016] | ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 | copy number loss | See cases [RCV000141743] | ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 | copy number loss | See cases [RCV000142337] | ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 | copy number loss | See cases [RCV000142137] | ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 | copy number loss | See cases [RCV000142037] | ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 | copy number gain | See cases [RCV000142157] | ChrX:153392250..153934599 [GRCh38] ChrX:152657708..153200052 [GRCh37] ChrX:152310902..152853246 [NCBI36] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 | copy number loss | See cases [RCV000142190] | ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 | copy number gain | See cases [RCV000143114] | ChrX:153861449..154140759 [GRCh38] ChrX:152780098..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 | copy number gain | See cases [RCV000143002] | ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 | copy number loss | See cases [RCV000142577] | ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 | copy number loss | See cases [RCV000143349] | ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 | copy number loss | See cases [RCV000143424] | ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 | copy number loss | See cases [RCV000143132] | ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 | copy number gain | See cases [RCV000240143] | ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 | copy number gain | See cases [RCV000239929] | ChrX:153047627..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 | copy number gain | See cases [RCV000239969] | ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 | copy number gain | See cases [RCV000240396] | ChrX:152993910..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 | copy number gain | See cases [RCV000240530] | ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 | copy number gain | See cases [RCV000240148] | ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 | copy number loss | See cases [RCV000240337] | ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001666.5(ARHGAP4):c.1036G>T (p.Ala346Ser) | single nucleotide variant | Inborn genetic diseases [RCV003267925] | ChrX:153913876 [GRCh38] ChrX:153179330 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 | copy number loss | See cases [RCV002285075] | ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) | copy number gain | Syndromic X-linked intellectual disability Lubs type [RCV003214133] | ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 | copy number loss | See cases [RCV000449365] | ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 | copy number gain | See cases [RCV000447331] | ChrX:152228560..154930047 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 | copy number loss | See cases [RCV000447490] | ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 | copy number gain | See cases [RCV000447506] | ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 | copy number gain | See cases [RCV000446151] | ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 | copy number loss | See cases [RCV000446761] | ChrX:150253008..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 | copy number gain | See cases [RCV000446471] | ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 | copy number loss | See cases [RCV000445891] | ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 | copy number gain | See cases [RCV000448796] | ChrX:152886474..153368990 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 | copy number loss | See cases [RCV000448724] | ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 | copy number loss | See cases [RCV000448865] | ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_001666.5(ARHGAP4):c.2608-6C>T | single nucleotide variant | not specified [RCV000455465] | ChrX:153907968 [GRCh38] ChrX:153173422 [GRCh37] ChrX:Xq28 |
benign |
NM_001666.5(ARHGAP4):c.1716T>C (p.His572=) | single nucleotide variant | not specified [RCV000455489] | ChrX:153910800 [GRCh38] ChrX:153176254 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 | copy number gain | See cases [RCV000510478] | ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 | copy number gain | See cases [RCV000510362] | ChrX:153097608..153681801 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 | copy number loss | See cases [RCV000511572] | ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 | copy number loss | See cases [RCV000511936] | ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 | copy number loss | See cases [RCV000511482] | ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 | copy number loss | See cases [RCV000511490] | ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 | copy number loss | See cases [RCV000511228] | ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 | copy number loss | See cases [RCV000510820] | ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 | copy number loss | See cases [RCV000510866] | ChrX:151963528..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 | copy number loss | See cases [RCV000510920] | ChrX:151311551..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 | copy number gain | See cases [RCV000510826] | ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001666.5(ARHGAP4):c.2509C>G (p.Pro837Ala) | single nucleotide variant | Inborn genetic diseases [RCV003284637] | ChrX:153909168 [GRCh38] ChrX:153174622 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153128098)_(153599633_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] | ChrX:153128098..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 | copy number gain | See cases [RCV000512403] | ChrX:152899437..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 | copy number loss | See cases [RCV000512372] | ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 | copy number gain | See cases [RCV000512173] | ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153138672-153665655) | copy number gain | Microcytic anemia [RCV000626549] | ChrX:153138672..153665655 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele | duplication | not provided [RCV000677999] | ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 | copy number loss | not provided [RCV000684397] | ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 | copy number loss | not provided [RCV000684401] | ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 | copy number gain | not provided [RCV000684402] | ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 | copy number loss | not provided [RCV000684373] | ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 | copy number loss | not provided [RCV000684357] | ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 | copy number loss | not provided [RCV000684363] | ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 | copy number gain | not provided [RCV000684736] | ChrX:152398094..153176959 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 | copy number gain | not provided [RCV000684738] | ChrX:152628304..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 | copy number gain | not provided [RCV000684739] | ChrX:152941302..153438781 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 | copy number gain | not provided [RCV000684741] | ChrX:153123907..153431401 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | copy number loss | not provided [RCV000684386] | ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NC_000023.10:g.(?_152954010)_(153599633_?)dup | duplication | Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] | ChrX:152954010..153599633 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NC_000023.10:g.(?_153128823)_(153416424_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] | ChrX:153128823..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128118)_(153416424_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] | ChrX:153128118..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153170600)_(153409869_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000708104]|not provided [RCV003117501] | ChrX:153170600..153409869 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153184286)_(153409869_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] | ChrX:153184286..153409869 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 | copy number loss | not provided [RCV000848218] | ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 | copy number loss | not provided [RCV000846958] | ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 | copy number loss | not provided [RCV000849097] | ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 | copy number loss | not provided [RCV000753810] | ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 | copy number gain | not provided [RCV000753922] | ChrX:152806628..153626649 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 | copy number gain | not provided [RCV000753930] | ChrX:153184816..153626794 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 | copy number loss | not provided [RCV000753815] | ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 | copy number loss | not provided [RCV000753606] | ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autism [RCV000754365] | ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_001666.5(ARHGAP4):c.1033-1347dup | duplication | not provided [RCV001691437] | ChrX:153915223..153915224 [GRCh38] ChrX:153180677..153180678 [GRCh37] ChrX:Xq28 |
benign |
NM_001666.5(ARHGAP4):c.1033-1305C>T | single nucleotide variant | not provided [RCV001693058] | ChrX:153915184 [GRCh38] ChrX:153180638 [GRCh37] ChrX:Xq28 |
benign |
NM_001666.5(ARHGAP4):c.67+7G>A | single nucleotide variant | not provided [RCV000967617] | ChrX:153926129 [GRCh38] ChrX:153191583 [GRCh37] ChrX:Xq28 |
benign |
NM_001666.5(ARHGAP4):c.1881G>A (p.Pro627=) | single nucleotide variant | not provided [RCV000883606] | ChrX:153910547 [GRCh38] ChrX:153176001 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 | copy number loss | not provided [RCV001007322] | ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) | copy number gain | not provided [RCV000767679] | ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153174571-153609996) | copy number gain | Syndromic X-linked intellectual disability Lubs type [RCV000767661] | ChrX:153174571..153609996 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001666.5(ARHGAP4):c.932C>T (p.Ala311Val) | single nucleotide variant | not provided [RCV000888479]|not specified [RCV001726363] | ChrX:153918932 [GRCh38] ChrX:153184386 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001666.5(ARHGAP4):c.2415-4G>A | single nucleotide variant | not provided [RCV000951365] | ChrX:153909539 [GRCh38] ChrX:153174993 [GRCh37] ChrX:Xq28 |
benign |
NM_001666.5(ARHGAP4):c.237C>A (p.Gly79=) | single nucleotide variant | not provided [RCV000921117] | ChrX:153921640 [GRCh38] ChrX:153187093 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152954020)_(154096327_?)del | deletion | Adrenoleukodystrophy [RCV000815921] | ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153137587)_(153363142_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] | ChrX:153137587..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128098)_(153363142_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] | ChrX:153128098..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_152990712)_(153650075_?)del | deletion | X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] | ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128108)_(153609567_?)dup | duplication | X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] | ChrX:153128108..153609567 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 | copy number gain | not provided [RCV000846316] | ChrX:153105400..153438105 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 | copy number gain | not provided [RCV000846110] | ChrX:153154008..153624566 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 | copy number loss | not provided [RCV000845672] | ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_001666.5(ARHGAP4):c.682-352T>C | single nucleotide variant | Inborn genetic diseases [RCV003272421] | ChrX:153919635 [GRCh38] ChrX:153185089 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) | copy number gain | Klinefelter syndrome [RCV003236730] | ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(154563736_?)del | deletion | Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] | ChrX:152014869..154563736 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153128118)_(153664237_?)dup | duplication | Heterotopia, periventricular, X-linked dominant [RCV003107402] | ChrX:153128118..153664237 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1033-1187A>G | single nucleotide variant | not provided [RCV001655037] | ChrX:153915066 [GRCh38] ChrX:153180520 [GRCh37] ChrX:Xq28 |
benign |
NM_001666.5(ARHGAP4):c.1260C>T (p.Asp420=) | single nucleotide variant | not provided [RCV000955059] | ChrX:153913475 [GRCh38] ChrX:153178929 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 | copy number loss | Premature ovarian insufficiency [RCV000852349] | ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NM_001666.5(ARHGAP4):c.1290C>T (p.Arg430=) | single nucleotide variant | not provided [RCV000887375] | ChrX:153913445 [GRCh38] ChrX:153178899 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 | copy number loss | not provided [RCV001007318] | ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 | copy number gain | not provided [RCV001007368] | ChrX:153029046..153567369 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954010)_(153363142_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] | ChrX:152954010..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 | copy number gain | not provided [RCV001007367] | ChrX:153023149..153345755 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NC_000023.10:g.(?_152990712)_(153650075_?)dup | duplication | X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] | ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) | copy number loss | Intellectual disability [RCV001249592] | ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 | copy number gain | not provided [RCV001007365] | ChrX:152516781..153368573 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 | copy number loss | not provided [RCV001259012] | ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152372767-155233731) | copy number gain | Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] | ChrX:152372767..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 | copy number gain | See cases [RCV001263024] | ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) | copy number loss | Turner syndrome [RCV002280668] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 | copy number gain | not provided [RCV001260058] | ChrX:153113943..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 | copy number gain | not provided [RCV001260059] | ChrX:153135257..153594096 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 | copy number gain | not provided [RCV001260062] | ChrX:152631130..153240286 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 | copy number gain | not provided [RCV001281359] | ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 | copy number gain | Chromosome Xq28 duplication syndrome [RCV001375670] | ChrX:153858452..154332213 [GRCh38] ChrX:Xq28 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV001391666] | ChrX:153128098..153498669 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001666.5(ARHGAP4):c.2113G>A (p.Val705Ile) | single nucleotide variant | Inborn genetic diseases [RCV002542985]|not provided [RCV001813175] | ChrX:153910214 [GRCh38] ChrX:153175668 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq28(chrX:153905292-154361918) | copy number gain | Syndromic X-linked intellectual disability Lubs type [RCV000012611] | ChrX:153905292..154361918 [GRCh38] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 | copy number loss | not provided [RCV001537933] | ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001666.5(ARHGAP4):c.926T>G (p.Val309Gly) | single nucleotide variant | not specified [RCV001650505] | ChrX:153918938 [GRCh38] ChrX:153184392 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152014869)_(155171615_?)del | deletion | 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] | ChrX:152014869..155171615 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(153363122_?)dup | duplication | Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] | ChrX:152014869..153363122 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) | copy number loss | Turner syndrome [RCV002280672] | ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152970475-153524157) | copy number gain | not specified [RCV002053204] | ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153105394-153421839) | copy number gain | not specified [RCV002053207] | ChrX:153105394..153421839 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 | copy number gain | not provided [RCV001834439] | ChrX:153093501..153792322 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 | copy number gain | not provided [RCV001829153] | ChrX:152740984..153431748 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152986307)_(153593345_?)dup | duplication | Heterotopia, periventricular, X-linked dominant [RCV001967054] | ChrX:152986307..153593345 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | not provided [RCV001829212] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135263-153594168) | copy number gain | not specified [RCV002053209] | ChrX:153135263..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV001839062] | ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153113943-153624020) | copy number gain | not specified [RCV002053208] | ChrX:153113943..153624020 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV001834509] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_152482081)_(153416424_?)del | deletion | Severe neonatal-onset encephalopathy with microcephaly [RCV001953905] | ChrX:152482081..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele | deletion | Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] | ChrX:153427468..156004919 [GRCh38] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954030)_(153283591_?)dup | duplication | Spastic paraplegia [RCV003111187]|not provided [RCV003111188] | ChrX:152954030..153283591 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153001546)_(154563736_?)dup | duplication | Adrenoleukodystrophy [RCV003119108] | ChrX:153001546..154563736 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152815772-153624215) | copy number gain | Global developmental delay [RCV002280663] | ChrX:152815772..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) | copy number gain | 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 | copy number gain | Klinefelter syndrome [RCV002282732] | ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 | copy number loss | See cases [RCV002286357] | ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 | copy number loss | See cases [RCV002292203] | ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152805142-153200052)x2 | copy number gain | not provided [RCV002474953] | ChrX:152805142..153200052 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 | copy number loss | not provided [RCV002474567] | ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_001666.5(ARHGAP4):c.2099C>T (p.Ser700Leu) | single nucleotide variant | Inborn genetic diseases [RCV003307264] | ChrX:153910228 [GRCh38] ChrX:153175682 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.1066G>A (p.Asp356Asn) | single nucleotide variant | Inborn genetic diseases [RCV002969223] | ChrX:153913846 [GRCh38] ChrX:153179300 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.157A>G (p.Met53Val) | single nucleotide variant | Inborn genetic diseases [RCV003012707] | ChrX:153921720 [GRCh38] ChrX:153187173 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2318T>C (p.Leu773Pro) | single nucleotide variant | Inborn genetic diseases [RCV002905552] | ChrX:153909837 [GRCh38] ChrX:153175291 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2188A>G (p.Asn730Asp) | single nucleotide variant | Inborn genetic diseases [RCV002683721] | ChrX:153910054 [GRCh38] ChrX:153175508 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2368G>A (p.Gly790Ser) | single nucleotide variant | Inborn genetic diseases [RCV002865952] | ChrX:153909787 [GRCh38] ChrX:153175241 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2018C>T (p.Pro673Leu) | single nucleotide variant | Inborn genetic diseases [RCV002688857] | ChrX:153910309 [GRCh38] ChrX:153175763 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2328C>G (p.His776Gln) | single nucleotide variant | Inborn genetic diseases [RCV002880126] | ChrX:153909827 [GRCh38] ChrX:153175281 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.556C>T (p.Arg186Trp) | single nucleotide variant | Inborn genetic diseases [RCV002688268] | ChrX:153920751 [GRCh38] ChrX:153186205 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2678G>A (p.Gly893Glu) | single nucleotide variant | Inborn genetic diseases [RCV002758911] | ChrX:153907892 [GRCh38] ChrX:153173346 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2666G>A (p.Arg889His) | single nucleotide variant | Inborn genetic diseases [RCV002784248] | ChrX:153907904 [GRCh38] ChrX:153173358 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.593G>A (p.Arg198Gln) | single nucleotide variant | Inborn genetic diseases [RCV002924977] | ChrX:153920714 [GRCh38] ChrX:153186168 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.863C>T (p.Thr288Met) | single nucleotide variant | Inborn genetic diseases [RCV002912359] | ChrX:153919001 [GRCh38] ChrX:153184455 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.2686T>C (p.Ser896Pro) | single nucleotide variant | Inborn genetic diseases [RCV002848746] | ChrX:153907884 [GRCh38] ChrX:153173338 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1819C>G (p.Leu607Val) | single nucleotide variant | Inborn genetic diseases [RCV002888375] | ChrX:153910609 [GRCh38] ChrX:153176063 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2312A>G (p.Asp771Gly) | single nucleotide variant | Inborn genetic diseases [RCV002783604] | ChrX:153909843 [GRCh38] ChrX:153175297 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.682-386G>T | single nucleotide variant | Inborn genetic diseases [RCV002705176] | ChrX:153919669 [GRCh38] ChrX:153185123 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2002C>A (p.Pro668Thr) | single nucleotide variant | Inborn genetic diseases [RCV002931001] | ChrX:153910325 [GRCh38] ChrX:153175779 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2825C>T (p.Thr942Ile) | single nucleotide variant | Inborn genetic diseases [RCV002804947]|not provided [RCV003434690] | ChrX:153907745 [GRCh38] ChrX:153173199 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001666.5(ARHGAP4):c.941C>G (p.Pro314Arg) | single nucleotide variant | Inborn genetic diseases [RCV002931310] | ChrX:153918923 [GRCh38] ChrX:153184377 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2819A>C (p.Asp940Ala) | single nucleotide variant | Inborn genetic diseases [RCV002787289] | ChrX:153907751 [GRCh38] ChrX:153173205 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1556C>T (p.Pro519Leu) | single nucleotide variant | Inborn genetic diseases [RCV002827836] | ChrX:153911176 [GRCh38] ChrX:153176630 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1822G>A (p.Glu608Lys) | single nucleotide variant | Inborn genetic diseases [RCV002713191] | ChrX:153910606 [GRCh38] ChrX:153176060 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2302C>T (p.Arg768Trp) | single nucleotide variant | Inborn genetic diseases [RCV003006970] | ChrX:153909853 [GRCh38] ChrX:153175307 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2665C>T (p.Arg889Cys) | single nucleotide variant | Inborn genetic diseases [RCV002984974] | ChrX:153907905 [GRCh38] ChrX:153173359 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1325C>T (p.Thr442Met) | single nucleotide variant | Inborn genetic diseases [RCV002984586] | ChrX:153913410 [GRCh38] ChrX:153178864 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2219C>T (p.Ala740Val) | single nucleotide variant | Inborn genetic diseases [RCV002668243] | ChrX:153910023 [GRCh38] ChrX:153175477 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2768G>A (p.Arg923Gln) | single nucleotide variant | Inborn genetic diseases [RCV002987979] | ChrX:153907802 [GRCh38] ChrX:153173256 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2110C>A (p.Pro704Thr) | single nucleotide variant | Inborn genetic diseases [RCV003220489] | ChrX:153910217 [GRCh38] ChrX:153175671 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.10C>T (p.His4Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003196288] | ChrX:153926193 [GRCh38] ChrX:153191647 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1000C>T (p.Arg334Cys) | single nucleotide variant | Inborn genetic diseases [RCV003173790] | ChrX:153918864 [GRCh38] ChrX:153184318 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.956C>G (p.Ala319Gly) | single nucleotide variant | Inborn genetic diseases [RCV003214808] | ChrX:153918908 [GRCh38] ChrX:153184362 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2489C>G (p.Ala830Gly) | single nucleotide variant | Inborn genetic diseases [RCV003202410] | ChrX:153909461 [GRCh38] ChrX:153174915 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2729C>T (p.Pro910Leu) | single nucleotide variant | Inborn genetic diseases [RCV003188764] | ChrX:153907841 [GRCh38] ChrX:153173295 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1601A>G (p.Asn534Ser) | single nucleotide variant | Inborn genetic diseases [RCV003196189] | ChrX:153911131 [GRCh38] ChrX:153176585 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2437G>A (p.Ala813Thr) | single nucleotide variant | Inborn genetic diseases [RCV003173978] | ChrX:153909513 [GRCh38] ChrX:153174967 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1756C>T (p.Arg586Trp) | single nucleotide variant | Inborn genetic diseases [RCV003207685] | ChrX:153910760 [GRCh38] ChrX:153176214 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.1779C>A (p.Phe593Leu) | single nucleotide variant | Inborn genetic diseases [RCV003345624] | ChrX:153910737 [GRCh38] ChrX:153176191 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.197G>A (p.Gly66Asp) | single nucleotide variant | Inborn genetic diseases [RCV003352378] | ChrX:153921680 [GRCh38] ChrX:153187133 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2162C>T (p.Ala721Val) | single nucleotide variant | Inborn genetic diseases [RCV003373972] | ChrX:153910080 [GRCh38] ChrX:153175534 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2521A>C (p.Thr841Pro) | single nucleotide variant | Inborn genetic diseases [RCV003350371] | ChrX:153909156 [GRCh38] ChrX:153174610 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.220T>A (p.Phe74Ile) | single nucleotide variant | Inborn genetic diseases [RCV003361738] | ChrX:153921657 [GRCh38] ChrX:153187110 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.220T>C (p.Phe74Leu) | single nucleotide variant | Inborn genetic diseases [RCV003350031] | ChrX:153921657 [GRCh38] ChrX:153187110 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 | copy number gain | not provided [RCV003483987] | ChrX:152941303..153549189 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 | copy number gain | not provided [RCV003483984] | ChrX:152707335..153624154 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 | copy number loss | not provided [RCV003483929] | ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 | copy number loss | not provided [RCV003483936] | ChrX:148598351..154943978 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 | copy number gain | not provided [RCV003483986] | ChrX:152916854..154775938 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001666.5(ARHGAP4):c.2560C>T (p.Arg854Cys) | single nucleotide variant | not provided [RCV003432629] | ChrX:153909117 [GRCh38] ChrX:153174571 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.1734C>T (p.Ala578=) | single nucleotide variant | not provided [RCV003432635] | ChrX:153910782 [GRCh38] ChrX:153176236 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.1242C>G (p.Leu414=) | single nucleotide variant | not provided [RCV003432636] | ChrX:153913493 [GRCh38] ChrX:153178947 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.864G>A (p.Thr288=) | single nucleotide variant | not provided [RCV003432639] | ChrX:153919000 [GRCh38] ChrX:153184454 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 | copy number loss | not provided [RCV003483930] | ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_001666.5(ARHGAP4):c.2533G>A (p.Ala845Thr) | single nucleotide variant | not provided [RCV003432630] | ChrX:153909144 [GRCh38] ChrX:153174598 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2412C>A (p.Ala804=) | single nucleotide variant | not provided [RCV003432631] | ChrX:153909743 [GRCh38] ChrX:153175197 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.2217C>A (p.Pro739=) | single nucleotide variant | not provided [RCV003432634] | ChrX:153910025 [GRCh38] ChrX:153175479 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.2244C>T (p.Val748=) | single nucleotide variant | not provided [RCV003432633] | ChrX:153909911 [GRCh38] ChrX:153175365 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.682-354G>A | single nucleotide variant | not provided [RCV003432640] | ChrX:153919637 [GRCh38] ChrX:153185091 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.2801C>T (p.Ser934Phe) | single nucleotide variant | not provided [RCV003432628] | ChrX:153907769 [GRCh38] ChrX:153173223 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001666.5(ARHGAP4):c.2409C>T (p.Pro803=) | single nucleotide variant | not provided [RCV003432632] | ChrX:153909746 [GRCh38] ChrX:153175200 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.2822C>T (p.Thr941Met) | single nucleotide variant | not provided [RCV003432627] | ChrX:153907748 [GRCh38] ChrX:153173202 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.1032+3G>A | single nucleotide variant | not provided [RCV003432637] | ChrX:153918829 [GRCh38] ChrX:153184283 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001666.5(ARHGAP4):c.997C>T (p.Leu333=) | single nucleotide variant | not provided [RCV003432638] | ChrX:153918867 [GRCh38] ChrX:153184321 [GRCh37] ChrX:Xq28 |
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. |
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ARHGAP4_4362 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1919 | 1879 | 1272 | 262 | 1935 | 138 | 2195 | 792 | 1755 | 272 | 1197 | 1362 | 125 | 1194 | 1159 | 1 | ||
Low | 499 | 1110 | 442 | 356 | 15 | 321 | 2141 | 1398 | 1958 | 140 | 243 | 221 | 44 | 1 | 10 | 1629 | 4 | 2 |
Below cutoff | 18 | 12 | 6 | 1 | 6 | 20 | 5 | 17 | 7 | 16 | 30 | 3 |
RefSeq Transcripts | NG_013220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001164741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AI249937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK294562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY183123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC023626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC052303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D50921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF510182 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF510654 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LS482301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U52112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X78817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z68128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000350060 ⟹ ENSP00000203786 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000370016 ⟹ ENSP00000359033 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000370028 ⟹ ENSP00000359045 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000393721 ⟹ ENSP00000377322 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000404127 ⟹ ENSP00000385042 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000418750 ⟹ ENSP00000411712 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000420383 ⟹ ENSP00000397533 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000422091 ⟹ ENSP00000413782 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000422918 ⟹ ENSP00000398019 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000442172 ⟹ ENSP00000408656 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000442262 ⟹ ENSP00000398259 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000454164 ⟹ ENSP00000412437 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000460782 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000461052 ⟹ ENSP00000473840 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000461739 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000463905 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000466928 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000467421 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000470209 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000470979 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000488269 ⟹ ENSP00000473936 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000494302 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000494397 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000494813 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000700282 ⟹ ENSP00000514915 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001164741 ⟹ NP_001158213 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001666 ⟹ NP_001657 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001158213 | (Get FASTA) | NCBI Sequence Viewer |
NP_001657 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH23626 | (Get FASTA) | NCBI Sequence Viewer |
AAH52303 | (Get FASTA) | NCBI Sequence Viewer | |
AAO66337 | (Get FASTA) | NCBI Sequence Viewer | |
BAA09480 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11812 | (Get FASTA) | NCBI Sequence Viewer | |
CAA55394 | (Get FASTA) | NCBI Sequence Viewer | |
CAA92213 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72777 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72778 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72779 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72780 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72781 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72782 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000203786 | ||
ENSP00000203786.8 | |||
ENSP00000359033.1 | |||
ENSP00000359045 | |||
ENSP00000359045.3 | |||
ENSP00000377322.1 | |||
ENSP00000385042.2 | |||
ENSP00000397533.1 | |||
ENSP00000398019.1 | |||
ENSP00000398259.1 | |||
ENSP00000408656.1 | |||
ENSP00000411712.1 | |||
ENSP00000412437.1 | |||
ENSP00000413782.1 | |||
ENSP00000473840.1 | |||
ENSP00000514915.1 | |||
GenBank Protein | P98171 | (Get FASTA) | NCBI Sequence Viewer |
SPT35678 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001657 ⟸ NM_001666 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q14144 (UniProtKB/Swiss-Prot), Q86UY3 (UniProtKB/Swiss-Prot), P98171 (UniProtKB/Swiss-Prot), Q9UGE8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001158213 ⟸ NM_001164741 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A2X0SF61 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000359033 ⟸ ENST00000370016 |
RefSeq Acc Id: | ENSP00000359045 ⟸ ENST00000370028 |
RefSeq Acc Id: | ENSP00000412437 ⟸ ENST00000454164 |
RefSeq Acc Id: | ENSP00000408656 ⟸ ENST00000442172 |
RefSeq Acc Id: | ENSP00000398259 ⟸ ENST00000442262 |
RefSeq Acc Id: | ENSP00000203786 ⟸ ENST00000350060 |
RefSeq Acc Id: | ENSP00000411712 ⟸ ENST00000418750 |
RefSeq Acc Id: | ENSP00000385042 ⟸ ENST00000404127 |
RefSeq Acc Id: | ENSP00000377322 ⟸ ENST00000393721 |
RefSeq Acc Id: | ENSP00000397533 ⟸ ENST00000420383 |
RefSeq Acc Id: | ENSP00000473936 ⟸ ENST00000488269 |
RefSeq Acc Id: | ENSP00000473840 ⟸ ENST00000461052 |
RefSeq Acc Id: | ENSP00000398019 ⟸ ENST00000422918 |
RefSeq Acc Id: | ENSP00000413782 ⟸ ENST00000422091 |
RefSeq Acc Id: | ENSP00000514915 ⟸ ENST00000700282 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P98171-F1-model_v2 | AlphaFold | P98171 | 1-946 | view protein structure |
RGD ID: | 6808996 | ||||||||
Promoter ID: | HG_KWN:68580 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000061122, OTTHUMT00000061123, OTTHUMT00000061124, OTTHUMT00000061125, OTTHUMT00000316202, UC004FJJ.1 | ||||||||
Position: |
|
RGD ID: | 6808497 | ||||||||
Promoter ID: | HG_KWN:68581 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000061126, OTTHUMT00000127795 | ||||||||
Position: |
|
RGD ID: | 6808494 | ||||||||
Promoter ID: | HG_KWN:68583 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Jurkat, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000127791 | ||||||||
Position: |
|
RGD ID: | 6808496 | ||||||||
Promoter ID: | HG_KWN:68584 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_2Hour, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000316210, OTTHUMT00000316211 | ||||||||
Position: |
|
RGD ID: | 6808493 | ||||||||
Promoter ID: | HG_KWN:68585 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000061120 | ||||||||
Position: |
|
RGD ID: | 6808679 | ||||||||
Promoter ID: | HG_KWN:68586 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000370016, ENST00000370028, ENST00000393721, NM_001666, OTTHUMT00000061118, OTTHUMT00000127571, OTTHUMT00000127792, OTTHUMT00000127793, OTTHUMT00000127794, OTTHUMT00000316209 | ||||||||
Position: |
|
RGD ID: | 6808495 | ||||||||
Promoter ID: | HG_KWN:68587 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000316207, OTTHUMT00000316208 | ||||||||
Position: |
|
RGD ID: | 6808706 | ||||||||
Promoter ID: | HG_KWN:68590 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000370009, ENST00000370011, ENST00000393710, ENST00000393712, OTTHUMT00000061108, OTTHUMT00000061110, OTTHUMT00000061113, OTTHUMT00000061114, OTTHUMT00000061115, OTTHUMT00000130128, OTTHUMT00000130130, OTTHUMT00000130131, OTTHUMT00000316205, OTTHUMT00000316206 | ||||||||
Position: |
|
RGD ID: | 13628548 | ||||||||
Promoter ID: | EPDNEW_H29512 | ||||||||
Type: | initiation region | ||||||||
Name: | ARHGAP4_3 | ||||||||
Description: | Rho GTPase activating protein 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H29513 EPDNEW_H29514 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13628550 | ||||||||
Promoter ID: | EPDNEW_H29513 | ||||||||
Type: | initiation region | ||||||||
Name: | ARHGAP4_2 | ||||||||
Description: | Rho GTPase activating protein 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H29512 EPDNEW_H29514 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13628552 | ||||||||
Promoter ID: | EPDNEW_H29514 | ||||||||
Type: | initiation region | ||||||||
Name: | ARHGAP4_1 | ||||||||
Description: | Rho GTPase activating protein 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H29512 EPDNEW_H29513 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:674 | AgrOrtholog |
COSMIC | ARHGAP4 | COSMIC |
Ensembl Genes | ENSG00000089820 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000350060 | ENTREZGENE |
ENST00000350060.10 | UniProtKB/Swiss-Prot | |
ENST00000370016.5 | UniProtKB/TrEMBL | |
ENST00000370028 | ENTREZGENE | |
ENST00000370028.7 | UniProtKB/Swiss-Prot | |
ENST00000393721.5 | UniProtKB/TrEMBL | |
ENST00000404127.6 | UniProtKB/TrEMBL | |
ENST00000418750.5 | UniProtKB/TrEMBL | |
ENST00000420383.5 | UniProtKB/TrEMBL | |
ENST00000422091.1 | UniProtKB/TrEMBL | |
ENST00000422918.5 | UniProtKB/TrEMBL | |
ENST00000442172.1 | UniProtKB/TrEMBL | |
ENST00000442262.5 | UniProtKB/TrEMBL | |
ENST00000454164.5 | UniProtKB/TrEMBL | |
ENST00000461052.5 | UniProtKB/TrEMBL | |
ENST00000700282.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.555.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.1270.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3 Domains | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000089820 | GTEx |
HGNC ID | HGNC:674 | ENTREZGENE |
Human Proteome Map | ARHGAP4 | Human Proteome Map |
InterPro | AH/BAR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
F_BAR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FCH_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rho_GTPase_activation_prot | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RhoGAP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
srGAP4_SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:393 | UniProtKB/Swiss-Prot |
NCBI Gene | 393 | ENTREZGENE |
OMIM | 300023 | OMIM |
PANTHER | RHO GTPASE-ACTIVATING PROTEIN 4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SLIT-ROBO RHO GTPASE ACTIVATING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | FCH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RhoGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_9 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA24958 | PharmGKB |
PROSITE | F_BAR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RHOGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | FCH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RhoGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF103657 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48350 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF50044 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0B4J1X7_HUMAN | UniProtKB/TrEMBL |
A0A2X0SF61 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8V8TPJ2_HUMAN | UniProtKB/TrEMBL | |
C9J5M2_HUMAN | UniProtKB/TrEMBL | |
C9JLA8_HUMAN | UniProtKB/TrEMBL | |
E7EQN5_HUMAN | UniProtKB/TrEMBL | |
E9PCM6_HUMAN | UniProtKB/TrEMBL | |
F8WAR0_HUMAN | UniProtKB/TrEMBL | |
H7C120_HUMAN | UniProtKB/TrEMBL | |
H7C2Z8_HUMAN | UniProtKB/TrEMBL | |
H7C3G3_HUMAN | UniProtKB/TrEMBL | |
H7C3K8_HUMAN | UniProtKB/TrEMBL | |
P98171 | ENTREZGENE | |
Q14144 | ENTREZGENE | |
Q6PJ34_HUMAN | UniProtKB/TrEMBL | |
Q86UY3 | ENTREZGENE | |
Q9UGE8 | ENTREZGENE, UniProtKB/TrEMBL | |
RHG04_HUMAN | UniProtKB/Swiss-Prot | |
S4R314_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | Q14144 | UniProtKB/Swiss-Prot |
Q86UY3 | UniProtKB/Swiss-Prot |