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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | primary ovarian insufficiency 2B | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | primary ovarian insufficiency 2B | | IAGP | | 7240710 | | OMIM | | |
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1. | OMIM Disease Annotation Pipeline |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
4. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:8125298 | PMID:9001815 | PMID:11299520 | PMID:12477932 | PMID:14702039 | PMID:15459172 | PMID:15489334 | PMID:15772651 | PMID:16773570 | PMID:17123869 | PMID:18029348 | PMID:20360068 |
PMID:20734064 | PMID:21145461 | PMID:21182205 | PMID:21800051 | PMID:21940798 | PMID:25084053 | PMID:25324306 | PMID:25468996 | PMID:26186194 | PMID:26618866 | PMID:26816005 | PMID:27545878 |
PMID:27591049 | PMID:27634302 | PMID:27705803 | PMID:28514442 | PMID:28675297 | PMID:28977666 | PMID:29117568 | PMID:29859926 | PMID:30699358 | PMID:31010829 | PMID:31180492 | PMID:31594818 |
PMID:32296183 | PMID:33144569 |
POF1B (Homo sapiens - human) |
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Pof1b (Mus musculus - house mouse) |
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Pof1b (Rattus norvegicus - Norway rat) |
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Pof1b (Chinchilla lanigera - long-tailed chinchilla) |
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POF1B (Pan paniscus - bonobo/pygmy chimpanzee) |
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POF1B (Canis lupus familiaris - dog) |
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Pof1b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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POF1B (Sus scrofa - pig) |
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POF1B (Chlorocebus sabaeus - African green monkey) |
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Pof1b (Heterocephalus glaber - naked mole-rat) |
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G65252 |
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G65264 |
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G65257 |
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G65265 |
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G65256 |
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G65266 |
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G65271 |
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G65225 |
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G65275 |
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G65255 |
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G65268 |
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G65259 |
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G65260 |
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G65226 |
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AL022445 |
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DXS7672 |
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DXS7604 |
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POF1B__5741 |
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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. |
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 | 573 | 76 | 32 | 108 | 237 | 36 | 1301 | 4 | 56 | 180 | 106 | 76 | 3 | 696 | ||||
Low | 727 | 888 | 908 | 200 | 713 | 112 | 389 | 473 | 285 | 177 | 461 | 1231 | 92 | 447 | 161 | 5 | 2 | |
Below cutoff | 1120 | 1858 | 732 | 282 | 779 | 282 | 2441 | 1603 | 2895 | 131 | 770 | 209 | 5 | 1 | 744 | 1831 | 1 |
RefSeq Transcripts | NG_016358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001307940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_024921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005262203 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF309774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AI591162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK128541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314295 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL117325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC017500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF459197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF510683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z82216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000262753 ⟹ ENSP00000262753 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000373145 ⟹ ENSP00000362238 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001307940 ⟹ NP_001294869 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_024921 ⟹ NP_079197 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005262203 ⟹ XP_005262260 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001294869 | (Get FASTA) | NCBI Sequence Viewer |
NP_079197 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005262260 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH17500 | (Get FASTA) | NCBI Sequence Viewer |
AAM93270 | (Get FASTA) | NCBI Sequence Viewer | |
BAB15055 | (Get FASTA) | NCBI Sequence Viewer | |
BAB15061 | (Get FASTA) | NCBI Sequence Viewer | |
BAB15485 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83049 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36950 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98560 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98561 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98562 | (Get FASTA) | NCBI Sequence Viewer | |
Q8WVV4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_079197 ⟸ NM_024921 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8WVV4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005262260 ⟸ XM_005262203 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001294869 ⟸ NM_001307940 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8WVV4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000362238 ⟸ ENST00000373145 |
RefSeq Acc Id: | ENSP00000262753 ⟸ ENST00000262753 |
RGD ID: | 6808711 | ||||||||
Promoter ID: | HG_KWN:67400 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | ENST00000276124, ENST00000373149, ENST00000395380, NM_024921, OTTHUMT00000057393, UC004EES.2 | ||||||||
Position: |
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RGD ID: | 13627564 | ||||||||
Promoter ID: | EPDNEW_H29057 | ||||||||
Type: | initiation region | ||||||||
Name: | POF1B_1 | ||||||||
Description: | premature ovarian failure, 1B | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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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 |
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) | single nucleotide variant | Premature ovarian failure 2b [RCV000011541]|Premature ovarian insufficiency [RCV000626964]|not provided [RCV000953408] | ChrX:85308188 [GRCh38] ChrX:84563194 [GRCh37] ChrX:Xq21.1 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024921.3(POF1B):c.854+4156G>T | single nucleotide variant | Lung cancer [RCV000102850] | ChrX:85326793 [GRCh38] ChrX:84581799 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
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: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)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 Xq21.1-21.31(chrX:79372269-91308122)x1 | copy number loss | See cases [RCV000050772] | ChrX:79372269..91308122 [GRCh38] ChrX:78627766..90563121 [GRCh37] ChrX:78514422..90449777 [NCBI36] ChrX:Xq21.1-21.31 |
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:10679-156013167)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 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 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 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 Xq21.1-21.2(chrX:81762602-86457999)x1 | copy number loss | See cases [RCV000051707] | ChrX:81762602..86457999 [GRCh38] ChrX:81018101..85713002 [GRCh37] ChrX:80904757..85599658 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 | copy number loss | See cases [RCV000051709] | ChrX:81765008..86444979 [GRCh38] ChrX:81020507..85699982 [GRCh37] ChrX:80907163..85586638 [NCBI36] ChrX:Xq21.1-21.2 |
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 Xq21.1-21.2(chrX:80329330-86150446)x1 | copy number loss | See cases [RCV000051670] | ChrX:80329330..86150446 [GRCh38] ChrX:79584829..85405450 [GRCh37] ChrX:79471485..85292106 [NCBI36] ChrX:Xq21.1-21.2 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 | copy number loss | See cases [RCV000051673] | ChrX:81762601..86471468 [GRCh38] ChrX:81018100..85726471 [GRCh37] ChrX:80904756..85613127 [NCBI36] ChrX:Xq21.1-21.2 |
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-q22.1(chrX:675360-100368517)x1 | copy number loss | See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
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: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)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: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 Xp11.22-q21.31(chrX:53985575-92203108)x1 | copy number loss | See cases [RCV000135306] | ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31 |
pathogenic |
GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1 | copy number loss | See cases [RCV000135328] | ChrX:81930916..85965282 [GRCh38] ChrX:81186415..85220287 [GRCh37] ChrX:81073071..85106943 [NCBI36] ChrX:Xq21.1-21.2 |
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 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 Xq21.1-28(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 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 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 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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 | copy number loss | See cases [RCV000137414] | ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
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 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 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 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
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 Xq21.1-21.31(chrX:80722314-92152619)x0 | copy number loss | See cases [RCV000139635] | ChrX:80722314..92152619 [GRCh38] ChrX:79977813..91407618 [GRCh37] ChrX:79864469..91294274 [NCBI36] ChrX:Xq21.1-21.31 |
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 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 Xq21.1-23(chrX:81109470-109442793)x1 | copy number loss | See cases [RCV000142372] | ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23 |
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 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 Xq21.1-21.2(chrX:85089622-85949735)x2 | copy number gain | See cases [RCV000143106] | ChrX:85089622..85949735 [GRCh38] ChrX:84344628..85204740 [GRCh37] ChrX:84231284..85091396 [NCBI36] ChrX:Xq21.1-21.2 |
uncertain significance |
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:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] 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 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] 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: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: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:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [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:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [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:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [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 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
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 |
NM_024921.4(POF1B):c.1371C>G (p.Gly457=) | single nucleotide variant | Premature ovarian failure 2b [RCV000271839] | ChrX:85305857 [GRCh38] ChrX:84560863 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.*835C>T | single nucleotide variant | Premature ovarian failure 2b [RCV000273063] | ChrX:85278586 [GRCh38] ChrX:84533592 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.1572C>G (p.Leu524=) | single nucleotide variant | Premature ovarian failure 2b [RCV000306993] | ChrX:85303483 [GRCh38] ChrX:84558489 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*1686G>T | single nucleotide variant | Premature ovarian failure 2b [RCV000355998] | ChrX:85277735 [GRCh38] ChrX:84532741 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.*42T>G | single nucleotide variant | Premature ovarian failure 2b [RCV000360702] | ChrX:85279379 [GRCh38] ChrX:84534385 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.*1380T>G | single nucleotide variant | Premature ovarian failure 2b [RCV000361609] | ChrX:85278041 [GRCh38] ChrX:84533047 [GRCh37] ChrX:Xq21.1 |
benign|uncertain significance |
NM_024921.4(POF1B):c.1374C>T (p.Asn458=) | single nucleotide variant | Premature ovarian failure 2b [RCV000366410]|not provided [RCV000962899] | ChrX:85305854 [GRCh38] ChrX:84560860 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.1045A>T (p.Met349Leu) | single nucleotide variant | Premature ovarian failure 2b [RCV000367385] | ChrX:85308129 [GRCh38] ChrX:84563135 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.716G>C (p.Cys239Ser) | single nucleotide variant | Premature ovarian failure 2b [RCV000277647]|not provided [RCV000973062] | ChrX:85345867 [GRCh38] ChrX:84600873 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.*368G>T | single nucleotide variant | Premature ovarian failure 2b [RCV000279213] | ChrX:85279053 [GRCh38] ChrX:84534059 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.-61C>T | single nucleotide variant | Premature ovarian failure 2b [RCV000318211] | ChrX:85379658 [GRCh38] ChrX:84634663 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.*44T>G | single nucleotide variant | Premature ovarian failure 2b [RCV000305986] | ChrX:85279377 [GRCh38] ChrX:84534383 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.113A>C (p.Gln38Pro) | single nucleotide variant | Premature ovarian failure 2b [RCV000281980]|not provided [RCV000974339] | ChrX:85379342 [GRCh38] ChrX:84634347 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.619C>T (p.Pro207Ser) | single nucleotide variant | Premature ovarian failure 2b [RCV000371822]|not provided [RCV000968808] | ChrX:85345964 [GRCh38] ChrX:84600970 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.1644T>C (p.Thr548=) | single nucleotide variant | Premature ovarian failure 2b [RCV000401532] | ChrX:85303411 [GRCh38] ChrX:84558417 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.*1112G>A | single nucleotide variant | Premature ovarian failure 2b [RCV000327061] | ChrX:85278309 [GRCh38] ChrX:84533315 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.*775G>T | single nucleotide variant | Premature ovarian failure 2b [RCV000328176] | ChrX:85278646 [GRCh38] ChrX:84533652 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.1300C>A (p.Gln434Lys) | single nucleotide variant | Premature ovarian failure 2b [RCV000331348] | ChrX:85306198 [GRCh38] ChrX:84561204 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.641A>G (p.Gln214Arg) | single nucleotide variant | Premature ovarian failure 2b [RCV000332657] | ChrX:85345942 [GRCh38] ChrX:84600948 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.*1019C>A | single nucleotide variant | Premature ovarian failure 2b [RCV000381627] | ChrX:85278402 [GRCh38] ChrX:84533408 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*352A>G | single nucleotide variant | Premature ovarian failure 2b [RCV000334327] | ChrX:85279069 [GRCh38] ChrX:84534075 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.*755G>A | single nucleotide variant | Premature ovarian failure 2b [RCV000387576] | ChrX:85278666 [GRCh38] ChrX:84533672 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.*669T>C | single nucleotide variant | Premature ovarian failure 2b [RCV000293176] | ChrX:85278752 [GRCh38] ChrX:84533758 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*584A>C | single nucleotide variant | Premature ovarian failure 2b [RCV000388715] | ChrX:85278837 [GRCh38] ChrX:84533843 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.*132T>C | single nucleotide variant | Premature ovarian failure 2b [RCV000341068] | ChrX:85279289 [GRCh38] ChrX:84534295 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.*312A>C | single nucleotide variant | Premature ovarian failure 2b [RCV000396077] | ChrX:85279109 [GRCh38] ChrX:84534115 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*44_*45insG | insertion | Premature ovarian failure 2b [RCV000396087] | ChrX:85279376..85279377 [GRCh38] ChrX:84534382..84534383 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.*268T>G | single nucleotide variant | Premature ovarian failure 2b [RCV000300224] | ChrX:85279153 [GRCh38] ChrX:84534159 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*635T>C | single nucleotide variant | Premature ovarian failure 2b [RCV000352843] | ChrX:85278786 [GRCh38] ChrX:84533792 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
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_001330574.2(ZNF711):c.*1411G>A | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000336262]|Premature ovarian failure 2b [RCV000323479]|ZNF711-Related X-linked Mental Retardation [RCV001168457] | ChrX:85273239 [GRCh38] ChrX:84528245 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_001330574.2(ZNF711):c.*632A>G | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000349795]|Premature ovarian failure 2b [RCV000358346]|ZNF711-Related X-linked Mental Retardation [RCV001168454] | ChrX:85272460 [GRCh38] ChrX:84527466 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*1849G>A | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000382782]|Premature ovarian failure 2b [RCV000402392] | ChrX:85277572 [GRCh38] ChrX:84532578 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*1626G>A | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000327426]|Premature ovarian failure 2b [RCV000265713] | ChrX:85277795 [GRCh38] ChrX:84532801 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*1173C>A | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000292246]|Premature ovarian failure 2b [RCV000267025] | ChrX:85278248 [GRCh38] ChrX:84533254 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_001330574.2(ZNF711):c.*1260G>A | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000314765]|Premature ovarian failure 2b [RCV000268292]|ZNF711-Related X-linked Mental Retardation [RCV001168456] | ChrX:85273088 [GRCh38] ChrX:84528094 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.*1808A>G | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000270019]|Premature ovarian failure 2b [RCV000301203] | ChrX:85277613 [GRCh38] ChrX:84532619 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.*1431A>C | single nucleotide variant | Non-syndromic X-linked intellectual disability [RCV000384275]|Premature ovarian failure 2b [RCV000302162] | ChrX:85277990 [GRCh38] ChrX:84532996 [GRCh37] ChrX:Xq21.1 |
benign |
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:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [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:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [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 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [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 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 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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 |
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 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 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
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 |
NM_024921.4(POF1B):c.1317+3A>T | single nucleotide variant | not provided [RCV000498073] | ChrX:85306178 [GRCh38] ChrX:84561184 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 | copy number loss | See cases [RCV000512026] | ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
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 |
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 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-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 |
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 |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
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 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 | copy number gain | not provided [RCV000684261] | ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
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 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xq21.1(chrX:84444331-84563220)x3 | copy number gain | not provided [RCV000753635] | ChrX:84444331..84563220 [GRCh37] ChrX:Xq21.1 |
benign |
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: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 |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] 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 |
NC_000023.10:g.36649710_136649711del100000002insG | indel | Heterotaxy, visceral, 1, X-linked [RCV000754886] | ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_024921.4(POF1B):c.1527G>A (p.Leu509=) | single nucleotide variant | not provided [RCV000894947] | ChrX:85304382 [GRCh38] ChrX:84559388 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.*484C>T | single nucleotide variant | Premature ovarian failure 2b [RCV001166805] | ChrX:85278937 [GRCh38] ChrX:84533943 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.1764+3A>G | single nucleotide variant | Premature ovarian failure 2b [RCV001168514]|not provided [RCV000900187] | ChrX:85282200 [GRCh38] ChrX:84537206 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.660T>C (p.Asn220=) | single nucleotide variant | not provided [RCV000928124] | ChrX:85345923 [GRCh38] ChrX:84600929 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.1566+10G>A | single nucleotide variant | Premature ovarian failure 2b [RCV001169254]|not provided [RCV000905161] | ChrX:85304333 [GRCh38] ChrX:84559339 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.1765-10del | deletion | not provided [RCV000898713] | ChrX:85279436 [GRCh38] ChrX:84534442 [GRCh37] ChrX:Xq21.1 |
benign |
NC_000023.10:g.(?_83372068)_(86924394_?)del | deletion | not provided [RCV001033923] | ChrX:83372068..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NC_000023.10:g.(?_82763333)_(86890775_?)del | deletion | not provided [RCV001033944] | ChrX:82763333..86890775 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NC_000023.10:g.(?_83126460)_(86924394_?)del | deletion | not provided [RCV001032392] | ChrX:83126460..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NC_000023.10:g.(?_83576897)_(86924394_?)del | deletion | not provided [RCV001033207] | ChrX:83576897..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NM_024921.4(POF1B):c.76C>T (p.Gln26Ter) | single nucleotide variant | Premature ovarian failure 2b [RCV000778899] | ChrX:85379379 [GRCh38] ChrX:84634384 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.315A>C (p.Thr105=) | single nucleotide variant | not provided [RCV000930774] | ChrX:85367734 [GRCh38] ChrX:84622739 [GRCh37] ChrX:Xq21.1 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_024921.4(POF1B):c.85C>A (p.His29Asn) | single nucleotide variant | Premature ovarian failure 2b [RCV001166855] | ChrX:85379370 [GRCh38] ChrX:84634375 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.*1113T>G | single nucleotide variant | Premature ovarian failure 2b [RCV001166275] | ChrX:85278308 [GRCh38] ChrX:84533314 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.*780G>A | single nucleotide variant | Premature ovarian failure 2b [RCV001166277] | ChrX:85278641 [GRCh38] ChrX:84533647 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.960G>A (p.Met320Ile) | single nucleotide variant | Premature ovarian failure 2b [RCV001166332] | ChrX:85308214 [GRCh38] ChrX:84563220 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 | copy number loss | not provided [RCV001007318] | ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_024921.4(POF1B):c.220G>T (p.Val74Leu) | single nucleotide variant | Premature ovarian failure 2b [RCV001166333] | ChrX:85379235 [GRCh38] ChrX:84634240 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.1595A>G (p.Tyr532Cys) | single nucleotide variant | Premature ovarian failure 2b [RCV001169253] | ChrX:85303460 [GRCh38] ChrX:84558466 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 | copy number loss | not provided [RCV000845670] | ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
NM_024921.4(POF1B):c.*1744A>G | single nucleotide variant | Premature ovarian failure 2b [RCV001169193] | ChrX:85277677 [GRCh38] ChrX:84532683 [GRCh37] ChrX:Xq21.1 |
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 |
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 | copy number loss | not provided [RCV000847338] | ChrX:74667077..90312981 [GRCh37] ChrX:Xq13.3-21.31 |
pathogenic |
NM_024921.4(POF1B):c.*686C>G | single nucleotide variant | Premature ovarian failure 2b [RCV001166804] | ChrX:85278735 [GRCh38] ChrX:84533741 [GRCh37] ChrX:Xq21.1 |
likely benign |
NM_024921.4(POF1B):c.*313C>T | single nucleotide variant | Premature ovarian failure 2b [RCV001166806] | ChrX:85279108 [GRCh38] ChrX:84534114 [GRCh37] ChrX:Xq21.1 |
benign |
NM_024921.4(POF1B):c.1383G>A (p.Thr461=) | single nucleotide variant | Premature ovarian failure 2b [RCV001169256]|not provided [RCV000886044] | ChrX:85305845 [GRCh38] ChrX:84560851 [GRCh37] ChrX:Xq21.1 |
benign|likely benign |
NM_024921.4(POF1B):c.943C>T (p.Arg315Cys) | single nucleotide variant | not provided [RCV000906752] | ChrX:85314446 [GRCh38] ChrX:84569452 [GRCh37] ChrX:Xq21.1 |
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 |
NC_000023.10:g.(?_84634178)_(85404112_?)del | deletion | not provided [RCV001033627] | ChrX:84634178..85404112 [GRCh37] ChrX:Xq21.2 |
pathogenic |
NM_024921.4(POF1B):c.1402A>C (p.Arg468=) | single nucleotide variant | Premature ovarian failure 2b [RCV001169255] | ChrX:85305826 [GRCh38] ChrX:84560832 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.1348C>A (p.Gln450Lys) | single nucleotide variant | Premature ovarian failure 2b [RCV001169257] | ChrX:85305880 [GRCh38] ChrX:84560886 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NM_024921.4(POF1B):c.*837T>G | single nucleotide variant | Premature ovarian failure 2b [RCV001166276] | ChrX:85278584 [GRCh38] ChrX:84533590 [GRCh37] ChrX:Xq21.1 |
uncertain significance |
NC_000023.10:g.(?_83372068)_(86890775_?)del | deletion | not provided [RCV001032728] | ChrX:83372068..86890775 [GRCh37] ChrX:Xq21.1-21.31 |
pathogenic |
NC_000023.10:g.(?_82763333)_(86924394_?)del | deletion | not provided [RCV001033898] | ChrX:82763333..86924394 [GRCh37] ChrX:Xq21.1-21.31 |
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 Xq21.1-25(chrX:77514079-127770854)x1 | copy number loss | not provided [RCV001259005] | ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25 |
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 |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:13711 | AgrOrtholog |
COSMIC | POF1B | COSMIC |
Ensembl Genes | ENSG00000124429 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000262753 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000362238 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000262753 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000373145 | ENTREZGENE, UniProtKB/Swiss-Prot | |
GTEx | ENSG00000124429 | GTEx |
HGNC ID | HGNC:13711 | ENTREZGENE |
Human Proteome Map | POF1B | Human Proteome Map |
InterPro | POF1B | UniProtKB/Swiss-Prot |
KEGG Report | hsa:79983 | UniProtKB/Swiss-Prot |
NCBI Gene | 79983 | ENTREZGENE |
OMIM | 300603 | OMIM |
300604 | OMIM | |
PANTHER | PTHR22546 | UniProtKB/Swiss-Prot |
PharmGKB | PA134937695 | PharmGKB |
UniProt | POF1B_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
UniProt Secondary | A8K2U5 | UniProtKB/Swiss-Prot |
Q5H9E9 | UniProtKB/Swiss-Prot | |
Q5H9F0 | UniProtKB/Swiss-Prot | |
Q8NG12 | UniProtKB/Swiss-Prot | |
Q9H5Y2 | UniProtKB/Swiss-Prot | |
Q9H738 | UniProtKB/Swiss-Prot | |
Q9H744 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-01-29 | POF1B | POF1B actin binding protein | POF1B, actin binding protein | Symbol and/or name change | 5135510 | APPROVED | |
2017-08-15 | POF1B | POF1B, actin binding protein | premature ovarian failure, 1B | Symbol and/or name change | 5135510 | APPROVED |