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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Lenz-Majewski hyperostotic dwarfism | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:24241535 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Lenz-Majewski hyperostotic dwarfism | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:24241535 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline |
3. | Pipeline to import KEGG annotations from KEGG into RGD |
4. | Pipeline to import SMPDB annotations from SMPDB into RGD |
5. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | RGD automated import pipeline for gene-chemical interactions |
7. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:1748687 | PMID:7584026 | PMID:10938271 | PMID:11084049 | PMID:12477932 | PMID:15489334 | PMID:18854154 | PMID:19014349 | PMID:19322201 | PMID:19946888 | PMID:20379614 | PMID:21516116 |
PMID:23125841 | PMID:23251661 | PMID:24241535 | PMID:24457600 | PMID:26496610 | PMID:26638075 | PMID:26742492 | PMID:26972000 | PMID:27025967 | PMID:27044099 | PMID:27173435 | PMID:28298427 |
PMID:28380382 | PMID:28515276 | PMID:28611215 | PMID:28692057 | PMID:29117863 | PMID:29180619 | PMID:29229926 | PMID:29341480 | PMID:29395067 | PMID:29509190 | PMID:29511261 | PMID:29615496 |
PMID:30352685 | PMID:30463901 | PMID:30940648 | PMID:31231513 | PMID:31365120 | PMID:31527615 | PMID:31685992 | PMID:31980649 | PMID:32694731 | PMID:32788342 | PMID:33005030 |
PTDSS1 (Homo sapiens - human) |
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Ptdss1 (Mus musculus - house mouse) |
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Ptdss1 (Rattus norvegicus - Norway rat) |
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Ptdss1 (Chinchilla lanigera - long-tailed chinchilla) |
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PTDSS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PTDSS1 (Canis lupus familiaris - dog) |
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Ptdss1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PTDSS1 (Sus scrofa - pig) |
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PTDSS1 (Chlorocebus sabaeus - African green monkey) |
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Ptdss1 (Heterocephalus glaber - naked mole-rat) |
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D8S1772 |
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STS-D14694 |
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RH123124 |
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D8S1369E |
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SHGC-146371 |
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WI-20923 |
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WI-9368 |
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PTDSS1__6947 |
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RH25262 |
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D8S2131 |
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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 | 2303 | 2710 | 1561 | 518 | 1798 | 362 | 4081 | 1753 | 3011 | 356 | 1409 | 1610 | 172 | 1 | 1193 | 2513 | 6 | 2 |
Low | 136 | 281 | 165 | 106 | 153 | 103 | 276 | 444 | 723 | 63 | 51 | 3 | 3 | 11 | 275 | |||
Below cutoff |
RefSeq Transcripts | NG_034054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001290225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_014754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK293036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK293513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP003465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM459031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D14694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY087183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC877275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000337004 ⟹ ENSP00000337331 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000517309 ⟹ ENSP00000430548 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000517557 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000517982 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000518776 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000522072 ⟹ ENSP00000430928 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001290225 ⟹ NP_001277154 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_014754 ⟹ NP_055569 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001277154 | (Get FASTA) | NCBI Sequence Viewer |
NP_055569 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH02376 | (Get FASTA) | NCBI Sequence Viewer |
AAH04192 | (Get FASTA) | NCBI Sequence Viewer | |
AAH04390 | (Get FASTA) | NCBI Sequence Viewer | |
AAH04502 | (Get FASTA) | NCBI Sequence Viewer | |
BAA03520 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85725 | (Get FASTA) | NCBI Sequence Viewer | |
BAG56996 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91753 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91754 | (Get FASTA) | NCBI Sequence Viewer | |
P48651 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055569 ⟸ NM_014754 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P48651 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001277154 ⟸ NM_001290225 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P48651 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000430548 ⟸ ENST00000517309 |
RefSeq Acc Id: | ENSP00000337331 ⟸ ENST00000337004 |
RefSeq Acc Id: | ENSP00000430928 ⟸ ENST00000522072 |
RGD ID: | 7213829 | ||||||||
Promoter ID: | EPDNEW_H12660 | ||||||||
Type: | initiation region | ||||||||
Name: | PTDSS1_1 | ||||||||
Description: | phosphatidylserine synthase 1 | ||||||||
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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RGD ID: | 6806964 | ||||||||
Promoter ID: | HG_KWN:61755 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000287025, ENST00000337004, UC003YHU.1, UC010MBD.1 | ||||||||
Position: |
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RGD ID: | 6853348 | ||||||||
Promoter ID: | EP74499 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_PTDSS1 | ||||||||
Description: | Phosphatidylserine synthase 1. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | ||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] | Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 | copy number loss | See cases [RCV000054278] | Chr8:92755532..97792132 [GRCh38] Chr8:93767760..98804360 [GRCh37] Chr8:93836936..98873536 [NCBI36] Chr8:8q22.1 |
pathogenic |
GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1 | copy number loss | See cases [RCV000054279] | Chr8:96065893..97276981 [GRCh38] Chr8:97078121..98289209 [GRCh37] Chr8:97147297..98358385 [NCBI36] Chr8:8q22.1 |
pathogenic |
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000083280] | Chr8:96309607 [GRCh38] Chr8:97321835 [GRCh37] Chr8:8q22.1 |
pathogenic |
NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000083281] | Chr8:96304092 [GRCh38] Chr8:97316320 [GRCh37] Chr8:8q22.1 |
pathogenic |
NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000083282] | Chr8:96304081 [GRCh38] Chr8:97316309 [GRCh37] Chr8:8q22.1 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 | copy number gain | See cases [RCV000134353] | Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 | copy number gain | See cases [RCV000135621] | Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 | copy number gain | See cases [RCV000138551] | Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 | copy number gain | See cases [RCV000139036] | Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 | copy number gain | See cases [RCV000142597] | Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 | copy number gain | See cases [RCV000143659] | Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
NM_014754.3(PTDSS1):c.911C>A (p.Thr304Asn) | single nucleotide variant | not specified [RCV000413772] | Chr8:96306460 [GRCh38] Chr8:97318688 [GRCh37] Chr8:8q22.1 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_014754.3(PTDSS1):c.421A>G (p.Thr141Ala) | single nucleotide variant | not provided [RCV000443001] | Chr8:96287126 [GRCh38] Chr8:97299354 [GRCh37] Chr8:8q22.1 |
likely pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 | copy number gain | See cases [RCV000511761] | Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3 |
pathogenic |
NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV001253177]|not provided [RCV000493041] | Chr8:96284121 [GRCh38] Chr8:97296349 [GRCh37] Chr8:8q22.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 | copy number gain | See cases [RCV000511002] | Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 | copy number gain | See cases [RCV000510854] | Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 | copy number gain | not provided [RCV000683045] | Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3 |
pathogenic |
GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1 | copy number loss | not provided [RCV000683017] | Chr8:96468763..98522743 [GRCh37] Chr8:8q22.1 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_014754.3(PTDSS1):c.591G>A (p.Glu197=) | single nucleotide variant | not provided [RCV000917685] | Chr8:96295247 [GRCh38] Chr8:97307475 [GRCh37] Chr8:8q22.1 |
likely benign |
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000984910] | Chr8:96306481 [GRCh38] Chr8:97318709 [GRCh37] Chr8:8q22.1 |
uncertain significance |
NM_014754.3(PTDSS1):c.417C>T (p.Tyr139=) | single nucleotide variant | not provided [RCV000885261] | Chr8:96287122 [GRCh38] Chr8:97299350 [GRCh37] Chr8:8q22.1 |
benign |
NM_014754.3(PTDSS1):c.1239A>G (p.Glu413=) | single nucleotide variant | not provided [RCV000928152] | Chr8:96330278 [GRCh38] Chr8:97342506 [GRCh37] Chr8:8q22.1 |
likely benign |
NM_014754.3(PTDSS1):c.930C>T (p.Ile310=) | single nucleotide variant | not provided [RCV000906301] | Chr8:96306479 [GRCh38] Chr8:97318707 [GRCh37] Chr8:8q22.1 |
likely benign |
NM_014754.3(PTDSS1):c.214G>A (p.Gly72Ser) | single nucleotide variant | not provided [RCV000905296] | Chr8:96273333 [GRCh38] Chr8:97285561 [GRCh37] Chr8:8q22.1 |
likely benign |
GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3 | copy number gain | Leri pleonosteosis [RCV000856633] | Chr8:97154645..98155535 [GRCh37] Chr8:8q22.1 |
pathogenic |
NM_014754.3(PTDSS1):c.1137C>G (p.Thr379=) | single nucleotide variant | not provided [RCV000968628] | Chr8:96320309 [GRCh38] Chr8:97332537 [GRCh37] Chr8:8q22.1 |
benign |
NM_014754.3(PTDSS1):c.1280A>G (p.Glu427Gly) | single nucleotide variant | not provided [RCV000971765] | Chr8:96331063 [GRCh38] Chr8:97343291 [GRCh37] Chr8:8q22.1 |
benign |
GRCh37/hg19 8q22.1(chr8:97320634-97354540)x1 | copy number loss | not provided [RCV000849960] | Chr8:97320634..97354540 [GRCh37] Chr8:8q22.1 |
uncertain significance |
NM_014754.3(PTDSS1):c.1346A>G (p.Asn449Ser) | single nucleotide variant | not provided [RCV000999059] | Chr8:96333490 [GRCh38] Chr8:97345718 [GRCh37] Chr8:8q22.1 |
uncertain significance |
NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000988099] | Chr8:96306502 [GRCh38] Chr8:97318730 [GRCh37] Chr8:8q22.1 |
uncertain significance |
NM_014754.3(PTDSS1):c.826C>A (p.Arg276=) | single nucleotide variant | not provided [RCV000898018] | Chr8:96304113 [GRCh38] Chr8:97316341 [GRCh37] Chr8:8q22.1 |
benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3 | copy number gain | not provided [RCV001006122] | Chr8:96646399..98973327 [GRCh37] Chr8:8q22.1 |
likely pathogenic |
NM_014754.3(PTDSS1):c.1198T>C (p.Tyr400His) | single nucleotide variant | not provided [RCV000938578] | Chr8:96330237 [GRCh38] Chr8:97342465 [GRCh37] Chr8:8q22.1 |
likely benign |
NM_014754.3(PTDSS1):c.1268C>A (p.Thr423Asn) | single nucleotide variant | not provided [RCV000953761] | Chr8:96331051 [GRCh38] Chr8:97343279 [GRCh37] Chr8:8q22.1 |
benign |
NM_014754.3(PTDSS1):c.1174-8T>C | single nucleotide variant | not provided [RCV000908056] | Chr8:96330205 [GRCh38] Chr8:97342433 [GRCh37] Chr8:8q22.1 |
benign |
NM_014754.3(PTDSS1):c.369C>G (p.Phe123Leu) | single nucleotide variant | not provided [RCV000906739] | Chr8:96287074 [GRCh38] Chr8:97299302 [GRCh37] Chr8:8q22.1 |
benign |
NM_014754.3(PTDSS1):c.1047C>T (p.Arg349=) | single nucleotide variant | not provided [RCV000880731] | Chr8:96309596 [GRCh38] Chr8:97321824 [GRCh37] Chr8:8q22.1 |
likely benign |
NM_014754.3(PTDSS1):c.409C>T (p.Leu137Phe) | single nucleotide variant | not provided [RCV001089765] | Chr8:96287114 [GRCh38] Chr8:97299342 [GRCh37] Chr8:8q22.1 |
uncertain significance |
NM_014754.3(PTDSS1):c.786_788dup (p.Ala263dup) | duplication | not provided [RCV001217556] | Chr8:96304072..96304073 [GRCh38] Chr8:97316300..97316301 [GRCh37] Chr8:8q22.1 |
uncertain significance |
NM_014754.3(PTDSS1):c.270T>C (p.Asn90=) | single nucleotide variant | not provided [RCV000956650] | Chr8:96273389 [GRCh38] Chr8:97285617 [GRCh37] Chr8:8q22.1 |
benign |
NM_014754.3(PTDSS1):c.1029C>T (p.Thr343=) | single nucleotide variant | not provided [RCV000911205] | Chr8:96309578 [GRCh38] Chr8:97321806 [GRCh37] Chr8:8q22.1 |
likely benign |
NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV001196358] | Chr8:96273366 [GRCh38] Chr8:97285594 [GRCh37] Chr8:8q22.1 |
uncertain significance |
NM_014754.3(PTDSS1):c.334T>G (p.Phe112Val) | single nucleotide variant | Microcephaly [RCV001252718] | Chr8:96287039 [GRCh38] Chr8:97299267 [GRCh37] Chr8:8q22.1 |
uncertain significance |
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 | copy number gain | not provided [RCV001259019] | Chr8:95803280..97802022 [GRCh37] Chr8:8q22.1 |
likely pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9587 | AgrOrtholog |
COSMIC | PTDSS1 | COSMIC |
Ensembl Genes | ENSG00000156471 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000337331 | UniProtKB/TrEMBL |
ENSP00000430548 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000430928 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000337004 | UniProtKB/TrEMBL |
ENST00000517309 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000522072 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000156471 | GTEx |
HGNC ID | HGNC:9587 | ENTREZGENE |
Human Proteome Map | PTDSS1 | Human Proteome Map |
InterPro | PSS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:9791 | UniProtKB/Swiss-Prot |
NCBI Gene | 9791 | ENTREZGENE |
OMIM | 151050 | OMIM |
612792 | OMIM | |
Pfam | PSS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA33939 | PharmGKB |
UniProt | J3KNR6_HUMAN | UniProtKB/TrEMBL |
P48651 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Q9BSY0_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B4DE85 | UniProtKB/Swiss-Prot |
E5RFC5 | UniProtKB/Swiss-Prot | |
Q9BUQ5 | UniProtKB/Swiss-Prot |