Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:9480748 | PMID:10049589 | PMID:12477932 | PMID:14702039 | PMID:15489334 | PMID:15558565 | PMID:15772651 | PMID:16344560 | PMID:17207965 | PMID:19322201 | PMID:19460752 | PMID:21304492 |
PMID:21873635 | PMID:24646681 | PMID:25416956 | PMID:26186194 | PMID:26871637 | PMID:27811305 | PMID:28089922 | PMID:28514442 | PMID:29193635 | PMID:30463901 | PMID:31515488 | PMID:31519561 |
PMID:32296183 | PMID:33961781 | PMID:35563538 | PMID:35831314 | PMID:38113892 |
AMMECR1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ammecr1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ammecr1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ammecr1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AMMECR1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AMMECR1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ammecr1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AMMECR1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AMMECR1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ammecr1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in AMMECR1
40 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
t(X;9)(q23;q12)dn | translocation | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000727550] | ChrX:Xq23 | likely pathogenic |
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 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:10679-156013167)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 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)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 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 Xq23(chrX:110192980-110500458)x0 | copy number loss | See cases [RCV000051727] | ChrX:110192980..110500458 [GRCh38] ChrX:109436208..109743686 [GRCh37] ChrX:109322864..109630342 [NCBI36] ChrX:Xq23 |
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 Xq21.1-23(chrX:77544283-110500317)x1 | copy number loss | See cases [RCV000051668] | ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23 |
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 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 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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] | ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1 |
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 Xq21.1-25(chrX:81261589-126519353)x3 | copy number gain | See cases [RCV000052438] | ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25 |
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: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 |
NM_001171689.1(AMMECR1):c.-148+38923A>T | single nucleotide variant | Lung cancer [RCV000102169] | ChrX:110387735 [GRCh38] ChrX:109630963 [GRCh37] ChrX:Xq23 |
uncertain significance |
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 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)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: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: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 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: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 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 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 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: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(chrX:109505229-110588158)x3 | copy number gain | See cases [RCV000136581] | ChrX:109505229..110588158 [GRCh38] ChrX:108748458..109831386 [GRCh37] ChrX:108635114..109718042 [NCBI36] ChrX:Xq23 |
uncertain significance |
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 Xq22.1-23(chrX:100597687-111651116)x4 | copy number gain | See cases [RCV000136029] | ChrX:100597687..111651116 [GRCh38] ChrX:99852684..110894344 [GRCh37] ChrX:99739340..110781000 [NCBI36] ChrX:Xq22.1-23 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) | copy number loss | See cases [RCV000136094] | ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
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 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 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 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 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 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 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
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 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 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 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 Xq21.32-23(chrX:93591590-112530092)x3 | copy number gain | See cases [RCV000139204] | ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23 |
pathogenic |
GRCh38/hg38 Xq23(chrX:110359806-111260954)x3 | copy number gain | See cases [RCV000140082] | ChrX:110359806..111260954 [GRCh38] ChrX:109603034..110504182 [GRCh37] ChrX:109489690..110390838 [NCBI36] ChrX:Xq23 |
uncertain significance |
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 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 Xq23(chrX:110132832-111177628)x3 | copy number gain | See cases [RCV000141767] | ChrX:110132832..111177628 [GRCh38] ChrX:109376060..110420856 [GRCh37] ChrX:109262716..110307512 [NCBI36] ChrX:Xq23 |
uncertain significance |
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) | copy number loss | See cases [RCV000141742] | ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
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 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 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
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 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 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 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: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 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: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 |
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 |
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 |
Single allele | duplication | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000677949] | ChrX:109412385..109552503 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 | copy number loss | Premature ovarian failure [RCV000225336] | ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24 |
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:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.36649710_136649711del100000002insG | indel | Heterotaxy, visceral, 1, X-linked [RCV000754886] | ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
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 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:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [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 |
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter) | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000515137] | ChrX:110317643 [GRCh38] ChrX:109560871 [GRCh37] ChrX:Xq23 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 | copy number gain | not provided [RCV000488046] | ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000416320]|not provided [RCV001851011] | ChrX:110264571 [GRCh38] ChrX:109507799 [GRCh37] ChrX:Xq23 |
pathogenic|uncertain significance |
NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp) | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000416359] | ChrX:110264543 [GRCh38] ChrX:109507771 [GRCh37] ChrX:Xq23 |
pathogenic|likely 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:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [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 Xq13.3-28(chrX:74787886-155233731)x1 | copy number loss | See cases [RCV000447490] | ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 | copy number loss | See cases [RCV000447004] | ChrX:107370001..110989043 [GRCh37] ChrX:Xq22.3-23 |
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:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
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:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 | copy number gain | See cases [RCV000446318] | ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1 |
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 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:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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: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 Xq13.2-27.1(chrX:72224362-139262228)x4 | copy number gain | See cases [RCV000448394] | ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1 |
pathogenic |
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 | copy number gain | See cases [RCV000448592] | ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 | copy number loss | See cases [RCV000448870] | ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
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 |
NC_000023.11:g.110250890_110665082del | deletion | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000515470] | ChrX:110250890..110665082 [GRCh38] ChrX:Xq23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 | copy number loss | See cases [RCV000510419] | ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 | copy number loss | See cases [RCV000511514] | ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23 |
pathogenic|uncertain significance |
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 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:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
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 Xq13.3-24(chrX:74560735-116609286) | copy number loss | See cases [RCV000510947] | ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24 |
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 |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_015365.3(AMMECR1):c.316T>C (p.Ser106Pro) | single nucleotide variant | Inborn genetic diseases [RCV003288770] | ChrX:110317756 [GRCh38] ChrX:109560984 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.322C>T (p.Pro108Ser) | single nucleotide variant | Inborn genetic diseases [RCV003288771] | ChrX:110317750 [GRCh38] ChrX:109560978 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.178A>G (p.Thr60Ala) | single nucleotide variant | Inborn genetic diseases [RCV003302342] | ChrX:110317894 [GRCh38] ChrX:109561122 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.250G>T (p.Ala84Ser) | single nucleotide variant | Inborn genetic diseases [RCV003302343] | ChrX:110317822 [GRCh38] ChrX:109561050 [GRCh37] ChrX:Xq23 |
likely benign |
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 | copy number gain | See cases [RCV000512365] | ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28 |
uncertain significance |
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 Xq21.31-28(chrX:91140025-155233731)x1 | copy number loss | not provided [RCV000684357] | ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 | copy number loss | not provided [RCV000684373] | ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
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 Xq22.3-28(chrX:104098124-155233731)x1 | copy number loss | not provided [RCV000846958] | ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq23(chrX:109680113-109698759)x2 | copy number gain | not provided [RCV000753704] | ChrX:109680113..109698759 [GRCh37] ChrX:Xq23 |
benign |
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:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
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)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 |
Single allele | duplication | Schizophrenia [RCV000754364] | ChrX:110074915..115196481 [GRCh38] ChrX:Xq23 |
likely 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 Xq21.32-23(chrX:91829757-113050225)x1 | copy number loss | Xq21.32q23 deletion [RCV001579312] | ChrX:91829757..113050225 [GRCh37] ChrX:Xq21.32-23 |
pathogenic |
NM_015365.3(AMMECR1):c.750A>G (p.Lys250=) | single nucleotide variant | not provided [RCV000923197] | ChrX:110202486 [GRCh38] ChrX:109445714 [GRCh37] ChrX:Xq23 |
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 Xq21.32-28(chrX:92814516-155233731)x1 | copy number loss | not provided [RCV000845672] | ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
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 |
NM_015365.3(AMMECR1):c.960T>C (p.Asn320=) | single nucleotide variant | not provided [RCV000960090] | ChrX:110198562 [GRCh38] ChrX:109441790 [GRCh37] ChrX:Xq23 |
benign |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_015365.3(AMMECR1):c.18C>T (p.Cys6=) | single nucleotide variant | not provided [RCV000936939] | ChrX:110318054 [GRCh38] ChrX:109561282 [GRCh37] ChrX:Xq23 |
likely benign |
NM_015365.3(AMMECR1):c.861A>G (p.Glu287=) | single nucleotide variant | not provided [RCV000942288] | ChrX:110200980 [GRCh38] ChrX:109444208 [GRCh37] ChrX:Xq23 |
likely benign |
NM_015365.3(AMMECR1):c.454dup (p.Arg152fs) | duplication | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV003313164]|not provided [RCV001008168] | ChrX:110317617..110317618 [GRCh38] ChrX:109560845..109560846 [GRCh37] ChrX:Xq23 |
pathogenic |
GRCh37/hg19 Xq23(chrX:109418639-110180983)x1 | copy number loss | not provided [RCV001007333] | ChrX:109418639..110180983 [GRCh37] ChrX:Xq23 |
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 |
NM_015365.3(AMMECR1):c.433_448del (p.Tyr145fs) | deletion | not provided [RCV001008249] | ChrX:110317624..110317639 [GRCh38] ChrX:109560852..109560867 [GRCh37] ChrX:Xq23 |
likely 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 |
GRCh37/hg19 Xq23(chrX:109275164-109662016)x3 | copy number gain | not provided [RCV000847328] | ChrX:109275164..109662016 [GRCh37] ChrX:Xq23 |
uncertain significance |
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 |
NM_015365.3(AMMECR1):c.790+160C>T | single nucleotide variant | not provided [RCV001672183] | ChrX:110202286 [GRCh38] ChrX:109445514 [GRCh37] ChrX:Xq23 |
benign |
NM_015365.3(AMMECR1):c.887+44G>T | single nucleotide variant | not provided [RCV001708093] | ChrX:110200910 [GRCh38] ChrX:109444138 [GRCh37] ChrX:Xq23 |
benign |
NM_015365.3(AMMECR1):c.794G>A (p.Trp265Ter) | single nucleotide variant | not provided [RCV001653078] | ChrX:110201047 [GRCh38] ChrX:109444275 [GRCh37] ChrX:Xq23 |
likely pathogenic |
NM_015365.3(AMMECR1):c.822A>G (p.Leu274=) | single nucleotide variant | not provided [RCV000895333] | ChrX:110201019 [GRCh38] ChrX:109444247 [GRCh37] ChrX:Xq23 |
likely benign |
NM_015365.3(AMMECR1):c.12T>C (p.Gly4=) | single nucleotide variant | not provided [RCV000934009] | ChrX:110318060 [GRCh38] ChrX:109561288 [GRCh37] ChrX:Xq23 |
likely benign |
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 | copy number loss | not provided [RCV001007332] | ChrX:105973323..110619655 [GRCh37] ChrX:Xq22.3-23 |
likely pathogenic |
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 Xq21.1-28(chrX:77670699-155233731)x1 | copy number loss | See cases [RCV002285075] | ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 | copy number loss | not provided [RCV001259005] | ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25 |
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 |
NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter) | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV001293686] | ChrX:110201036 [GRCh38] ChrX:109444264 [GRCh37] ChrX:Xq23 |
likely 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 Xq22.3-23(chrX:108168780-109606201)x0 | copy number loss | not provided [RCV001537894] | ChrX:108168780..109606201 [GRCh37] ChrX:Xq22.3-23 |
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 gain | 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 | copy number gain | not provided [RCV001281359] | ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
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_015365.3(AMMECR1):c.887+43T>A | single nucleotide variant | not provided [RCV001710800] | ChrX:110200911 [GRCh38] ChrX:109444139 [GRCh37] ChrX:Xq23 |
benign |
NM_015365.3(AMMECR1):c.526A>G (p.Ile176Val) | single nucleotide variant | not provided [RCV001763752] | ChrX:110264547 [GRCh38] ChrX:109507775 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2 | copy number gain | not provided [RCV001795543] | ChrX:104782507..112949573 [GRCh37] ChrX:Xq22.3-23 |
likely pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) | copy number loss | Turner syndrome [RCV002280672] | ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_015365.3(AMMECR1):c.86C>T (p.Ser29Phe) | single nucleotide variant | not provided [RCV001799840] | ChrX:110317986 [GRCh38] ChrX:109561214 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV001834509] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
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 Xq22.2-23(chrX:103158718-111556067) | copy number gain | not specified [RCV002053170] | ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23 |
pathogenic |
GRCh37/hg19 Xq23(chrX:109084747-109828826) | copy number gain | not specified [RCV002053174] | ChrX:109084747..109828826 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq23(chrX:109522315-109929010)x3 | copy number gain | not provided [RCV001829227] | ChrX:109522315..109929010 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) | copy number gain | not specified [RCV002053166] | ChrX:101982475..116885339 [GRCh37] ChrX:Xq22.1-24 |
pathogenic |
NM_015365.3(AMMECR1):c.799C>T (p.His267Tyr) | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV002225217] | ChrX:110201042 [GRCh38] ChrX:109444270 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.791G>T (p.Gly264Val) | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV002225156] | ChrX:110201050 [GRCh38] ChrX:109444278 [GRCh37] ChrX:Xq23 |
uncertain significance |
AMMECR1, ARG168TER | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV002248382] | pathogenic | |
AMMECR1, TYR143TER | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV002248383] | 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 Xq21.1-24(chrX:76794355-119282836)x3 | copy number gain | not provided [RCV002291535] | ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24 |
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 Xp22.33-q28(chrX:200855-155240074) | copy number gain | Klinefelter syndrome [RCV003236730] | ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_015365.3(AMMECR1):c.127G>A (p.Glu43Lys) | single nucleotide variant | not provided [RCV002291826] | ChrX:110317945 [GRCh38] ChrX:109561173 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 | copy number loss | not provided [RCV002474518] | ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24 |
pathogenic |
GRCh37/hg19 Xq23(chrX:109520211-109929010)x3 | copy number gain | not provided [RCV002473749] | ChrX:109520211..109929010 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq23(chrX:109622178-110242737)x3 | copy number gain | not provided [RCV002474874] | ChrX:109622178..110242737 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.53C>A (p.Pro18His) | single nucleotide variant | Inborn genetic diseases [RCV002752913] | ChrX:110318019 [GRCh38] ChrX:109561247 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.238G>C (p.Gly80Arg) | single nucleotide variant | AMMECR1-related condition [RCV003395645]|Inborn genetic diseases [RCV002836868] | ChrX:110317834 [GRCh38] ChrX:109561062 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq23(chrX:108922296-111549785)x1 | copy number loss | not provided [RCV002475804] | ChrX:108922296..111549785 [GRCh37] ChrX:Xq23 |
pathogenic |
NM_015365.3(AMMECR1):c.898G>T (p.Glu300Ter) | single nucleotide variant | not provided [RCV002462639] | ChrX:110198624 [GRCh38] ChrX:109441852 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.313T>G (p.Ser105Ala) | single nucleotide variant | Inborn genetic diseases [RCV002897641] | ChrX:110317759 [GRCh38] ChrX:109560987 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.220C>A (p.Gln74Lys) | single nucleotide variant | Inborn genetic diseases [RCV002717863] | ChrX:110317852 [GRCh38] ChrX:109561080 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.757G>A (p.Ala253Thr) | single nucleotide variant | not provided [RCV003225396] | ChrX:110202479 [GRCh38] ChrX:109445707 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.202T>C (p.Cys68Arg) | single nucleotide variant | not provided [RCV003227227] | ChrX:110317870 [GRCh38] ChrX:109561098 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.23T>A (p.Val8Glu) | single nucleotide variant | not provided [RCV003328903] | ChrX:110318049 [GRCh38] ChrX:109561277 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.528_535delinsGTAATC (p.Ile176_Phe179delinsMetTer) | indel | not provided [RCV003327290] | ChrX:110264538..110264545 [GRCh38] ChrX:109507766..109507773 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.887+2T>A | single nucleotide variant | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV003333540] | ChrX:110200952 [GRCh38] ChrX:109444180 [GRCh37] ChrX:Xq23 |
likely pathogenic |
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 | copy number loss | not provided [RCV003483927] | ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25 |
pathogenic |
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 | copy number gain | not provided [RCV003485304] | ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24 |
pathogenic |
NM_015365.3(AMMECR1):c.402C>T (p.Cys134=) | single nucleotide variant | not provided [RCV003432368] | ChrX:110317670 [GRCh38] ChrX:109560898 [GRCh37] ChrX:Xq23 |
likely benign |
NM_015365.3(AMMECR1):c.*3C>A | single nucleotide variant | not provided [RCV003432366] | ChrX:110198517 [GRCh38] ChrX:109441745 [GRCh37] ChrX:Xq23 |
uncertain significance |
NM_015365.3(AMMECR1):c.957A>G (p.Gln319=) | single nucleotide variant | not provided [RCV003432367] | ChrX:110198565 [GRCh38] ChrX:109441793 [GRCh37] ChrX:Xq23 |
likely benign |
NM_015365.3(AMMECR1):c.220C>G (p.Gln74Glu) | single nucleotide variant | not provided [RCV003432369] | ChrX:110317852 [GRCh38] ChrX:109561080 [GRCh37] ChrX:Xq23 |
likely benign |
NM_015365.3(AMMECR1):c.305C>T (p.Ala102Val) | single nucleotide variant | AMMECR1-related condition [RCV003399821] | ChrX:110317767 [GRCh38] ChrX:109560995 [GRCh37] ChrX:Xq23 |
uncertain significance |
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) | copy number loss | not specified [RCV003986202] | ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28 |
pathogenic |
NM_015365.3(AMMECR1):c.283A>T (p.Thr95Ser) | single nucleotide variant | AMMECR1-related condition [RCV003967181] | ChrX:110317789 [GRCh38] ChrX:109561017 [GRCh37] ChrX:Xq23 |
likely benign |
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 | copy number gain | not provided [RCV003885530] | ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28 |
pathogenic |
NM_015365.3(AMMECR1):c.356C>G (p.Pro119Arg) | single nucleotide variant | AMMECR1-related condition [RCV003904227] | ChrX:110317716 [GRCh38] ChrX:109560944 [GRCh37] ChrX:Xq23 |
likely benign |
NM_001396022.1(GNG5B):c.30G>T (p.Thr10=) | single nucleotide variant | not provided [RCV003432370] | ChrX:110346880 [GRCh38] ChrX:109590108 [GRCh37] ChrX:Xq23 |
likely benign |
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 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 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 |
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 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_015365.3(AMMECR1):c.454del (p.Arg152fs) | deletion | Short stature [RCV000736184] | ChrX:110317618 [GRCh38] ChrX:109560846 [GRCh37] ChrX:Xq23 |
pathogenic |
NM_015365.3(AMMECR1):c.114G>C (p.Gln38His) | single nucleotide variant | Inborn genetic diseases [RCV003302341] | ChrX:110317958 [GRCh38] ChrX:109561186 [GRCh37] ChrX:Xq23 |
uncertain significance |
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. |
RH46895 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH80484 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH80450 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
AL032569 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
G42344 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
G65693 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
DXS7733 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
DXS7531 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
AL022442 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
L77264 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
AL008900 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH77921 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
DXS7599 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
AF020160 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
WI-16868 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
DXS9727 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
SGC34545 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
RH11202 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
A009N07 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
L77265 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
AF026413 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
G32676 |
|
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 | |
High | |||||||||||||||||
Medium | 148 | 3 | 45 | 33 | 590 | 33 | 989 | 52 | 76 | 99 | 363 | 245 | 10 | 66 | 419 | 3 | |
Low | 2283 | 2569 | 1676 | 587 | 1238 | 429 | 3305 | 1821 | 3317 | 317 | 1088 | 1363 | 163 | 1137 | 2308 | 1 | |
Below cutoff | 2 | 412 | 3 | 2 | 120 | 2 | 61 | 320 | 338 | 2 | 4 | 1 | 1 | 1 | 1 | 61 | 1 |
RefSeq Transcripts | NG_016469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001025580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001171689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_015365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC000113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ007014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ012221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ012222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ012223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ012224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ012225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ012226 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001703 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK055321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK091430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL079334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL137844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL359079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC024762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC037983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC051895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC060813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC065214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX648797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA203031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF459306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000262844 ⟹ ENSP00000262844 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000372057 ⟹ ENSP00000361127 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000372059 ⟹ ENSP00000361129 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000473662 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000496695 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000680410 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000686065 ⟹ ENSP00000509935 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000697559 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001025580 ⟹ NP_001020751 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001171689 ⟹ NP_001165160 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_015365 ⟹ NP_056180 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001020751 | (Get FASTA) | NCBI Sequence Viewer |
NP_001165160 | (Get FASTA) | NCBI Sequence Viewer | |
NP_056180 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH60813 | (Get FASTA) | NCBI Sequence Viewer |
ALQ33954 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33955 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37168 | (Get FASTA) | NCBI Sequence Viewer | |
BAG50964 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52359 | (Get FASTA) | NCBI Sequence Viewer | |
CAB45546 | (Get FASTA) | NCBI Sequence Viewer | |
CAB58122 | (Get FASTA) | NCBI Sequence Viewer | |
CAB58123 | (Get FASTA) | NCBI Sequence Viewer | |
EAX02663 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000262844 | ||
ENSP00000262844.5 | |||
ENSP00000361127 | |||
ENSP00000361127.1 | |||
ENSP00000361129 | |||
ENSP00000361129.2 | |||
ENSP00000509935.1 | |||
GenBank Protein | Q9Y4X0 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001020751 ⟸ NM_001025580 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A0S2Z4V0 (UniProtKB/TrEMBL), B2RBC1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_056180 ⟸ NM_015365 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8WX22 (UniProtKB/Swiss-Prot), Q6P9D8 (UniProtKB/Swiss-Prot), Q5JYV9 (UniProtKB/Swiss-Prot), Q9UIQ8 (UniProtKB/Swiss-Prot), Q9Y4X0 (UniProtKB/Swiss-Prot), A0A0S2Z4X0 (UniProtKB/TrEMBL), B2RBC1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001165160 ⟸ NM_001171689 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q9Y4X0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000361127 ⟸ ENST00000372057 |
RefSeq Acc Id: | ENSP00000361129 ⟸ ENST00000372059 |
RefSeq Acc Id: | ENSP00000262844 ⟸ ENST00000262844 |
RefSeq Acc Id: | ENSP00000509935 ⟸ ENST00000686065 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y4X0-F1-model_v2 | AlphaFold | Q9Y4X0 | 1-333 | view protein structure |
RGD ID: | 6808481 | ||||||||
Promoter ID: | HG_KWN:67752 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001025580, OTTHUMT00000057907, OTTHUMT00000057909, OTTHUMT00000057910 | ||||||||
Position: |
|
RGD ID: | 13627862 | ||||||||
Promoter ID: | EPDNEW_H29207 | ||||||||
Type: | initiation region | ||||||||
Name: | AMMECR1_1 | ||||||||
Description: | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosischromosomal region gene 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:467 | AgrOrtholog |
COSMIC | AMMECR1 | COSMIC |
Ensembl Genes | ENSG00000101935 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000262844 | ENTREZGENE |
ENST00000262844.10 | UniProtKB/Swiss-Prot | |
ENST00000372057 | ENTREZGENE | |
ENST00000372057.1 | UniProtKB/Swiss-Prot | |
ENST00000372059 | ENTREZGENE | |
ENST00000372059.6 | UniProtKB/Swiss-Prot | |
ENST00000686065.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000101935 | GTEx |
HGNC ID | HGNC:467 | ENTREZGENE |
Human Proteome Map | AMMECR1 | Human Proteome Map |
InterPro | AMMECR1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AMMECR1_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AMMECR1_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AMMECR1_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9949 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 9949 | ENTREZGENE |
OMIM | 300195 | OMIM |
PANTHER | AMME SYNDROME CANDIDATE GENE 1 PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR13016 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | AMMECR1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA24772 | PharmGKB |
PROSITE | AMMECR1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF143447 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0S2Z4V0 | ENTREZGENE, UniProtKB/TrEMBL |
A0A0S2Z4X0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I5KSJ4_HUMAN | UniProtKB/TrEMBL | |
AMMR1_HUMAN | UniProtKB/Swiss-Prot | |
B2RBC1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5JYV9 | ENTREZGENE | |
Q6P9D8 | ENTREZGENE | |
Q8WX22 | ENTREZGENE | |
Q9UIQ8 | ENTREZGENE | |
Q9Y4X0 | ENTREZGENE | |
UniProt Secondary | Q5JYV9 | UniProtKB/Swiss-Prot |
Q6P9D8 | UniProtKB/Swiss-Prot | |
Q8WX22 | UniProtKB/Swiss-Prot | |
Q9UIQ8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-08-27 | AMMECR1 | AMMECR nuclear protein 1 | AMMECR1 | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | Symbol and/or name change | 5135510 | APPROVED |