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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | WDR73 | Human | Galloway-Mowat syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25466283 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | WDR73 | Human | Galloway-Mowat syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25466283 | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:8125298 | PMID:12477932 | PMID:14702039 | PMID:20301317 | PMID:21873635 | PMID:21900206 | PMID:22939629 | PMID:24024966 | PMID:25466283 | PMID:25873735 | PMID:26070982 | PMID:26123727 |
PMID:26186194 | PMID:27432908 | PMID:27983999 | PMID:28514442 | PMID:29150431 | PMID:29929488 | PMID:30315938 | PMID:33001583 | PMID:33187986 | PMID:33686175 | PMID:33961781 | PMID:35559673 |
PMID:35831314 | PMID:36724073 | PMID:37167062 |
WDR73 (Homo sapiens - human) |
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Wdr73 (Mus musculus - house mouse) |
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Wdr73 (Rattus norvegicus - Norway rat) |
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Wdr73 (Chinchilla lanigera - long-tailed chinchilla) |
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WDR73 (Pan paniscus - bonobo/pygmy chimpanzee) |
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WDR73 (Canis lupus familiaris - dog) |
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Wdr73 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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WDR73 (Sus scrofa - pig) |
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WDR73 (Chlorocebus sabaeus - green monkey) |
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Wdr73 (Heterocephalus glaber - naked mole-rat) |
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Variants in WDR73
236 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1 | copy number loss | VATER association [RCV000521465] | Chr15:84931022..85728834 [GRCh37] Chr15:15q25.2-25.3 |
likely benign |
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1 | copy number loss | See cases [RCV000051252] | Chr15:84391435..85185613 [GRCh38] Chr15:84946133..85728844 [GRCh37] Chr15:82737137..83529848 [NCBI36] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] | Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 | copy number gain | See cases [RCV000052347] | Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 | copy number gain | See cases [RCV000052352] | Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) | microsatellite | Galloway-Mowat syndrome 1 [RCV000190489] | Chr15:84646300..84646301 [GRCh38] Chr15:85189531..85189532 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000190488]|Nephrotic syndrome [RCV001849331] | Chr15:84645651 [GRCh38] Chr15:85188882 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000190491]|not provided [RCV000414279] | Chr15:84653673 [GRCh38] Chr15:85196904 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000190492]|Nephrotic syndrome [RCV001849332]|not provided [RCV001093435] | Chr15:84643667 [GRCh38] Chr15:85186898 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic|not provided |
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000190493]|Nephrotic syndrome [RCV001849333]|not provided [RCV000657966] | Chr15:84648537 [GRCh38] Chr15:85191768 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000190490] | Chr15:84643568 [GRCh38] Chr15:85186799 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003148355] | Chr15:84643679 [GRCh38] Chr15:85186910 [GRCh37] Chr15:15q25.2 |
pathogenic|uncertain significance |
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 | copy number gain | See cases [RCV000135858] | Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1 | copy number loss | See cases [RCV000135800] | Chr15:84391435..85123078 [GRCh38] Chr15:84946133..85666309 [GRCh37] Chr15:82737137..83467313 [NCBI36] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 | copy number gain | See cases [RCV000136849] | Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1 | copy number loss | See cases [RCV000137052] | Chr15:82560915..85185613 [GRCh38] Chr15:83229665..85728844 [GRCh37] Chr15:81026720..83529848 [NCBI36] Chr15:15q25.2-25.3 |
likely pathogenic|uncertain significance |
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1 | copy number loss | See cases [RCV000137479] | Chr15:84391435..85157671 [GRCh38] Chr15:84946133..85700902 [GRCh37] Chr15:82737137..83501906 [NCBI36] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1 | copy number loss | See cases [RCV000141915] | Chr15:84260061..85181753 [GRCh38] Chr15:84928813..85724984 [GRCh37] Chr15:82719817..83525988 [NCBI36] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 | copy number gain | See cases [RCV000143019] | Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 | copy number gain | See cases [RCV000142915] | Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3 | copy number gain | See cases [RCV000142585] | Chr15:84391435..85123078 [GRCh38] Chr15:84946133..85666309 [GRCh37] Chr15:82737137..83467313 [NCBI36] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1 | copy number loss | See cases [RCV000143125] | Chr15:82627214..85243616 [GRCh38] Chr15:83083418..85786847 [GRCh37] Chr15:80880473..83587851 [NCBI36] Chr15:15q25.2-25.3 |
likely pathogenic |
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000150038] | Chr15:84652783 [GRCh38] Chr15:85196014 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.766dup (p.Arg256fs) | duplication | Galloway-Mowat syndrome 1 [RCV000150039]|not provided [RCV002274932] | Chr15:84645587..84645588 [GRCh38] Chr15:85188818..85188819 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:85146993-85671005)x1 | copy number loss | See cases [RCV000240117] | Chr15:85146993..85671005 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.41+3A>G | single nucleotide variant | not provided [RCV000518918] | Chr15:84654231 [GRCh38] Chr15:85197462 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.888del (p.Phe296fs) | deletion | Galloway-Mowat syndrome 1 [RCV000210866]|WDR73-related disorder [RCV004547506]|not provided [RCV000224128] | Chr15:84643719 [GRCh38] Chr15:85186950 [GRCh37] Chr15:15q25.2 |
pathogenic |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 | copy number gain | See cases [RCV000511332] | Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 | copy number gain | See cases [RCV000240602] | Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
NM_032856.5(WDR73):c.1132del (p.Arg378fs) | deletion | Galloway-Mowat syndrome 1 [RCV005008253]|not provided [RCV000416071]|not specified [RCV002271485] | Chr15:84643475 [GRCh38] Chr15:85186706 [GRCh37] Chr15:15q25.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) | duplication | Galloway-Mowat syndrome 1 [RCV003150812]|WDR73-related disorder [RCV004547711]|not provided [RCV000369066] | Chr15:84643474..84643475 [GRCh38] Chr15:85186705..85186706 [GRCh37] Chr15:15q25.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln) | single nucleotide variant | WDR73-related disorder [RCV004553325]|not provided [RCV000598160] | Chr15:84643672 [GRCh38] Chr15:85186903 [GRCh37] Chr15:15q25.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:85172183-85680021)x3 | copy number gain | See cases [RCV000599229] | Chr15:85172183..85680021 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002481705]|not provided [RCV000523844] | Chr15:84645588 [GRCh38] Chr15:85188819 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 | copy number gain | not provided [RCV000415836] | Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:84789775-85710777)x3 | copy number gain | not provided [RCV000415974] | Chr15:84789775..85710777 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002477733]|Inborn genetic diseases [RCV004027100]|not provided [RCV000734988] | Chr15:84643655 [GRCh38] Chr15:85186886 [GRCh37] Chr15:15q25.2 |
likely benign|uncertain significance |
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 | copy number gain | See cases [RCV000449119] | Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x1 | copy number loss | See cases [RCV000446360] | Chr15:85146993..85670946 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 | copy number gain | See cases [RCV000447123] | Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:84928925-85344646)x3 | copy number gain | See cases [RCV000446302] | Chr15:84928925..85344646 [GRCh37] Chr15:15q25.2-25.3 |
likely benign |
GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x3 | copy number gain | See cases [RCV000447248] | Chr15:85146993..85670946 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 | copy number gain | See cases [RCV000445705] | Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 | copy number gain | See cases [RCV000447765] | Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:84915078-85724984)x1 | copy number loss | See cases [RCV000447720] | Chr15:84915078..85724984 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:84827468-85724984)x1 | copy number loss | See cases [RCV000448855] | Chr15:84827468..85724984 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 | copy number gain | See cases [RCV000510717] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) | copy number gain | See cases [RCV000512019] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:84928829-85724984)x1 | copy number loss | See cases [RCV000511466] | Chr15:84928829..85724984 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:85085321-85709192)x3 | copy number gain | See cases [RCV000511776] | Chr15:85085321..85709192 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.518-10G>A | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002481563]|not provided [RCV000492885] | Chr15:84645846 [GRCh38] Chr15:85189077 [GRCh37] Chr15:15q25.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:85084470-85724984)x1 | copy number loss | See cases [RCV000511878] | Chr15:85084470..85724984 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309) | copy number loss | Hearing impairment [RCV000626506] | Chr15:85149690..85666309 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.814C>A (p.Pro272Thr) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012846]|Inborn genetic diseases [RCV003291399] | Chr15:84645540 [GRCh38] Chr15:85188771 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:85084470-85725149)x1 | copy number loss | See cases [RCV000512178] | Chr15:85084470..85725149 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
Single allele | duplication | not provided [RCV000677926] | Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
Single allele | deletion | not provided [RCV000677914] | Chr15:84546236..85127774 [GRCh38] Chr15:85089467..85671005 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 | copy number gain | not provided [RCV000683703] | Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 | copy number gain | not provided [RCV000683712] | Chr15:79023343..87158823 [GRCh37] Chr15:15q25.1-25.3 |
pathogenic |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 | copy number gain | not provided [RCV000683710] | Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_032856.5(WDR73):c.82C>T (p.Arg28Ter) | single nucleotide variant | not provided [RCV004812768] | Chr15:84653659 [GRCh38] Chr15:85196890 [GRCh37] Chr15:15q25.2 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:85037316-85728834)x3 | copy number gain | not provided [RCV000738855] | Chr15:85037316..85728834 [GRCh37] Chr15:15q25.2-25.3 |
benign |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_032856.5(WDR73):c.198+8_198+13del | deletion | not provided [RCV000893340] | Chr15:84652701..84652706 [GRCh38] Chr15:85195932..85195937 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.353-300C>A | single nucleotide variant | not provided [RCV001535343] | Chr15:84646648 [GRCh38] Chr15:84646648..84646649 [GRCh38] Chr15:85189879 [GRCh37] Chr15:85189879..85189880 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.41+262G>A | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002495944]|not provided [RCV001585391] | Chr15:84653972 [GRCh38] Chr15:85197203 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1046G>A (p.Trp349Ter) | single nucleotide variant | not provided [RCV000760961] | Chr15:84643561 [GRCh38] Chr15:85186792 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.872T>A (p.Leu291Ter) | single nucleotide variant | not provided [RCV000760694] | Chr15:84645482 [GRCh38] Chr15:85188713 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000991212]|not provided [RCV004721694] | Chr15:84643723 [GRCh38] Chr15:85186954 [GRCh37] Chr15:15q25.2 |
likely pathogenic|uncertain significance |
NM_032856.5(WDR73):c.928G>A (p.Gly310Arg) | single nucleotide variant | WDR73-related disorder [RCV004553464]|not provided [RCV000967378] | Chr15:84643679 [GRCh38] Chr15:85186910 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.421G>A (p.Val141Ile) | single nucleotide variant | not provided [RCV000969303] | Chr15:84646280 [GRCh38] Chr15:85189511 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.883+8C>T | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002479123]|not provided [RCV000966437] | Chr15:84645463 [GRCh38] Chr15:85188694 [GRCh37] Chr15:15q25.2 |
benign|likely benign |
NM_032856.5(WDR73):c.267A>G (p.Leu89=) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002479038]|WDR73-related disorder [RCV004551727]|not provided [RCV000902648] | Chr15:84648557 [GRCh38] Chr15:85191788 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1126G>T (p.Ala376Ser) | single nucleotide variant | Inborn genetic diseases [RCV002548330]|WDR73-related disorder [RCV004553472]|not provided [RCV000968714] | Chr15:84643481 [GRCh38] Chr15:85186712 [GRCh37] Chr15:15q25.2 |
likely benign|uncertain significance |
NM_032856.5(WDR73):c.972C>G (p.Leu324=) | single nucleotide variant | not provided [RCV000926136] | Chr15:84643635 [GRCh38] Chr15:85186866 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.981C>T (p.His327=) | single nucleotide variant | not provided [RCV000927751] | Chr15:84643626 [GRCh38] Chr15:85186857 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.336G>A (p.Gln112=) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002479092]|not provided [RCV000949804] | Chr15:84647906 [GRCh38] Chr15:85191137 [GRCh37] Chr15:15q25.2 |
benign|likely benign |
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) | duplication | Galloway-Mowat syndrome 1 [RCV000995911]|not provided [RCV002275179] | Chr15:84645634..84645635 [GRCh38] Chr15:85188865..85188866 [GRCh37] Chr15:15q25.2 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120) | copy number loss | not provided [RCV000767760] | Chr15:85147499..85681120 [GRCh37] Chr15:15q25.2-25.3 |
likely pathogenic |
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) | copy number loss | not provided [RCV000767759] | Chr15:83883823..92165844 [GRCh37] Chr15:15q25.2-26.1 |
pathogenic |
NM_032856.5(WDR73):c.229C>T (p.Arg77Cys) | single nucleotide variant | not provided [RCV000905103] | Chr15:84648595 [GRCh38] Chr15:85191826 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.591A>G (p.Ser197=) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002245708]|not provided [RCV000839046]|not specified [RCV001724172] | Chr15:84645763 [GRCh38] Chr15:85188994 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000786039] | Chr15:84645587 [GRCh38] Chr15:85188818 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.284C>G (p.Thr95Ser) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012836]|Inborn genetic diseases [RCV003245084] | Chr15:84648540 [GRCh38] Chr15:85191771 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV000785981] | Chr15:84647949 [GRCh38] Chr15:85191180 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.1011G>T (p.Gly337=) | single nucleotide variant | WDR73-related disorder [RCV004550078]|not provided [RCV000891568] | Chr15:84643596 [GRCh38] Chr15:85186827 [GRCh37] Chr15:15q25.2 |
benign|likely benign |
NM_032856.5(WDR73):c.618G>A (p.Arg206=) | single nucleotide variant | not provided [RCV000914231] | Chr15:84645736 [GRCh38] Chr15:85188967 [GRCh37] Chr15:15q25.2 |
likely benign |
GRCh37/hg19 15q25.2-25.3(chr15:84884801-85724984)x1 | copy number loss | not provided [RCV000848401] | Chr15:84884801..85724984 [GRCh37] Chr15:15q25.2-25.3 |
pathogenic |
NM_032856.5(WDR73):c.568_569del (p.Thr190fs) | microsatellite | not provided [RCV001008441] | Chr15:84645785..84645786 [GRCh38] Chr15:85189016..85189017 [GRCh37] Chr15:15q25.2 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:84928663-85786847)x1 | copy number loss | not provided [RCV001006715] | Chr15:84928663..85786847 [GRCh37] Chr15:15q25.2-25.3 |
likely pathogenic|uncertain significance |
NM_032856.5(WDR73):c.41T>C (p.Leu14Ser) | single nucleotide variant | not provided [RCV003239251] | Chr15:84654234 [GRCh38] Chr15:85197465 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.710dup (p.Gly238fs) | duplication | Galloway-Mowat syndrome 1 [RCV000989368]|not provided [RCV002549726] | Chr15:84645643..84645644 [GRCh38] Chr15:85188874..85188875 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
NM_032856.5(WDR73):c.198+83T>C | single nucleotide variant | not provided [RCV001576973] | Chr15:84652631 [GRCh38] Chr15:84652631..84652632 [GRCh38] Chr15:85195862 [GRCh37] Chr15:85195862..85195863 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002243377]|not provided [RCV001663043] | Chr15:84643606 [GRCh38] Chr15:85186837 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.198+286A>G | single nucleotide variant | not provided [RCV001670979] | Chr15:84652428 [GRCh38] Chr15:85195659 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) | microsatellite | Galloway-Mowat syndrome 1 [RCV002488434]|not provided [RCV001590388] | Chr15:84643645..84643646 [GRCh38] Chr15:85186876..85186877 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.884-198A>G | single nucleotide variant | not provided [RCV001651587] | Chr15:84643921 [GRCh38] Chr15:85187152 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.*124G>A | single nucleotide variant | not provided [RCV001615659] | Chr15:84643346 [GRCh38] Chr15:85186577 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.746G>A (p.Arg249His) | single nucleotide variant | not provided [RCV001613868] | Chr15:84645608 [GRCh38] Chr15:85188839 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.480C>T (p.Val160=) | single nucleotide variant | WDR73-related disorder [RCV004551735]|not provided [RCV000903798] | Chr15:84646221 [GRCh38] Chr15:85189452 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.33C>T (p.Ser11=) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002502754]|not provided [RCV000913926] | Chr15:84654242 [GRCh38] Chr15:85197473 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1128C>T (p.Ala376=) | single nucleotide variant | not provided [RCV000913967] | Chr15:84643479 [GRCh38] Chr15:85186710 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002495888]|not provided [RCV001556612] | Chr15:84646347 [GRCh38] Chr15:85189578 [GRCh37] Chr15:15q25.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032856.5(WDR73):c.198+181C>T | single nucleotide variant | not provided [RCV001570558] | Chr15:84652533 [GRCh38] Chr15:85195764 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) | microsatellite | Galloway-Mowat syndrome 1 [RCV000989367]|not provided [RCV001672992] | Chr15:84643646..84643663 [GRCh38] Chr15:85186877..85186894 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.198+267G>A | single nucleotide variant | not provided [RCV001578140] | Chr15:84652447 [GRCh38] Chr15:85195678 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.42-70G>A | single nucleotide variant | not provided [RCV001559090] | Chr15:84653769 [GRCh38] Chr15:85197000 [GRCh37] Chr15:15q25.2 |
likely benign |
GRCh37/hg19 15q25.2-25.3(chr15:84827469-85786847)x1 | copy number loss | not provided [RCV002472536] | Chr15:84827469..85786847 [GRCh37] Chr15:15q25.2-25.3 |
likely pathogenic |
NM_032856.5(WDR73):c.883+65C>A | single nucleotide variant | not provided [RCV001561338] | Chr15:84645406 [GRCh38] Chr15:85188637 [GRCh37] Chr15:15q25.2 |
likely benign |
GRCh37/hg19 15q25.2-25.3(chr15:85084471-85528298)x3 | copy number gain | not provided [RCV002473552] | Chr15:85084471..85528298 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.750_751del (p.Cys251fs) | deletion | not provided [RCV001008416] | Chr15:84645603..84645604 [GRCh38] Chr15:85188834..85188835 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.1116G>A (p.Val372=) | single nucleotide variant | not provided [RCV001532262] | Chr15:84643491 [GRCh38] Chr15:85186722 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.884-149G>A | single nucleotide variant | not provided [RCV001655183] | Chr15:84643872 [GRCh38] Chr15:84643872..84643873 [GRCh38] Chr15:85187103 [GRCh37] Chr15:85187103..85187104 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.288-89G>C | single nucleotide variant | not provided [RCV001652017] | Chr15:84648043 [GRCh38] Chr15:85191274 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.110-211C>T | single nucleotide variant | not provided [RCV001621855] | Chr15:84653013 [GRCh38] Chr15:85196244 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.*172A>T | single nucleotide variant | not provided [RCV001658442] | Chr15:84643298 [GRCh38] Chr15:85186529 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.883+282G>A | single nucleotide variant | not provided [RCV001658851] | Chr15:84645189 [GRCh38] Chr15:85188420 [GRCh37] Chr15:15q25.2 |
likely benign |
NC_000015.10:g.84654285G>A | single nucleotide variant | not provided [RCV001681803] | Chr15:84654285 [GRCh38] Chr15:85197516 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.*64C>G | single nucleotide variant | not provided [RCV001666095] | Chr15:84643406 [GRCh38] Chr15:85186637 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.468A>C (p.Arg156=) | single nucleotide variant | not provided [RCV001645513] | Chr15:84646233 [GRCh38] Chr15:85189464 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.681T>A (p.Cys227Ter) | single nucleotide variant | Dystonic disorder [RCV001003983] | Chr15:84645673 [GRCh38] Chr15:85188904 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.42-1G>C | single nucleotide variant | Seizure [RCV001003984] | Chr15:84653700 [GRCh38] Chr15:85196931 [GRCh37] Chr15:15q25.2 |
pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:85089553-85876582)x3 | copy number gain | not provided [RCV001259717] | Chr15:85089553..85876582 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV001332717]|Inborn genetic diseases [RCV001265694] | Chr15:84645728 [GRCh38] Chr15:85188959 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
NC_000015.9:g.(?_32964879)_(91358519_?)dup | duplication | Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] | Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1 | copy number loss | not provided [RCV001259716] | Chr15:83201955..85786847 [GRCh37] Chr15:15q25.2-25.3 |
pathogenic |
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) | microsatellite | Galloway-Mowat syndrome 1 [RCV001336798]|not provided [RCV002546795] | Chr15:84653637..84653639 [GRCh38] Chr15:85196868..85196870 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002493627]|not provided [RCV001311059] | Chr15:84643477 [GRCh38] Chr15:85186708 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV001332716]|not provided [RCV002546595] | Chr15:84643475 [GRCh38] Chr15:85186706 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.699G>A (p.Trp233Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012024] | Chr15:84645655 [GRCh38] Chr15:85188886 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
NM_032856.5(WDR73):c.810C>T (p.Ser270=) | single nucleotide variant | not provided [RCV001618778] | Chr15:84645544 [GRCh38] Chr15:85188775 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.41+212A>G | single nucleotide variant | not provided [RCV001724699] | Chr15:84654022 [GRCh38] Chr15:85197253 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.838C>T (p.Arg280Ter) | single nucleotide variant | not provided [RCV001756420] | Chr15:84645516 [GRCh38] Chr15:85188747 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002477969]|Inborn genetic diseases [RCV002539144]|not provided [RCV001752540] | Chr15:84645758 [GRCh38] Chr15:85188989 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.872T>C (p.Leu291Ser) | single nucleotide variant | not provided [RCV001768819] | Chr15:84645482 [GRCh38] Chr15:85188713 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1097T>C (p.Leu366Pro) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005006006]|not provided [RCV001757846] | Chr15:84643510 [GRCh38] Chr15:85186741 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.173_174del (p.Leu58fs) | microsatellite | Abnormality of the nervous system [RCV001814556] | Chr15:84652738..84652739 [GRCh38] Chr15:85195969..85195970 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs) | microsatellite | Galloway-Mowat syndrome 1 [RCV001849894] | Chr15:84643510..84643511 [GRCh38] Chr15:85186741..85186742 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002052212] | Chr15:84645752 [GRCh38] Chr15:85188983 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1062A>G (p.Pro354=) | single nucleotide variant | not provided [RCV002126383] | Chr15:84643545 [GRCh38] Chr15:85186776 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.774C>T (p.Leu258=) | single nucleotide variant | not provided [RCV002088301] | Chr15:84645580 [GRCh38] Chr15:85188811 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.816T>C (p.Pro272=) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002494075]|not provided [RCV002196853] | Chr15:84645538 [GRCh38] Chr15:85188769 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.41+17_41+27del | deletion | not provided [RCV002179400] | Chr15:84654207..84654217 [GRCh38] Chr15:85197438..85197448 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.515C>T (p.Ser172Leu) | single nucleotide variant | not provided [RCV003115926] | Chr15:84646186 [GRCh38] Chr15:85189417 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NC_000015.9:g.(?_85186701)_(85197505_?)dup | duplication | not provided [RCV003122910] | Chr15:85186701..85197505 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:84908070-85681134) | copy number loss | WDR73-related disorder [RCV003236739] | Chr15:84908070..85681134 [GRCh37] Chr15:15q25.2-25.3 |
pathogenic |
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer) | duplication | Galloway-Mowat syndrome 1 [RCV002267792]|not provided [RCV003101527] | Chr15:84645788..84645789 [GRCh38] Chr15:85189019..85189020 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:84910816-85786847)x1 | copy number loss | not provided [RCV002474932] | Chr15:84910816..85786847 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.884-108C>G | single nucleotide variant | not provided [RCV002469914] | Chr15:84643831 [GRCh38] Chr15:85187062 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.182C>T (p.Ser61Phe) | single nucleotide variant | not provided [RCV002301454] | Chr15:84652730 [GRCh38] Chr15:85195961 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.21G>A (p.Trp7Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005002994]|Inborn genetic diseases [RCV002860592]|not provided [RCV003546902] | Chr15:84654254 [GRCh38] Chr15:85197485 [GRCh37] Chr15:15q25.2 |
pathogenic|likely pathogenic |
NM_032856.5(WDR73):c.784G>T (p.Val262Leu) | single nucleotide variant | Inborn genetic diseases [RCV002776858] | Chr15:84645570 [GRCh38] Chr15:85188801 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.595C>T (p.Arg199Trp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005008658]|not provided [RCV002616992] | Chr15:84645759 [GRCh38] Chr15:85188990 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1127C>G (p.Ala376Gly) | single nucleotide variant | Inborn genetic diseases [RCV002817974] | Chr15:84643480 [GRCh38] Chr15:85186711 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.518-11C>T | single nucleotide variant | not provided [RCV002614703] | Chr15:84645847 [GRCh38] Chr15:85189078 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1126G>A (p.Ala376Thr) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV004577025]|not provided [RCV002686234] | Chr15:84643481 [GRCh38] Chr15:85186712 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.8C>T (p.Pro3Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005010976]|not provided [RCV003075632] | Chr15:84654267 [GRCh38] Chr15:85197498 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV002510644] | Chr15:84645707 [GRCh38] Chr15:85188938 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.884-3C>T | single nucleotide variant | not provided [RCV002972065] | Chr15:84643726 [GRCh38] Chr15:85186957 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003148042] | Chr15:84645727 [GRCh38] Chr15:85188958 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.334C>G (p.Gln112Glu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005011005]|Inborn genetic diseases [RCV003083053]|not provided [RCV003097612] | Chr15:84647908 [GRCh38] Chr15:85191139 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.644G>A (p.Arg215His) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005010836]|not provided [RCV002967587] | Chr15:84645710 [GRCh38] Chr15:85188941 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 | copy number gain | not provided [RCV002475797] | Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_032856.5(WDR73):c.198+14T>C | single nucleotide variant | not provided [RCV002618354] | Chr15:84652700 [GRCh38] Chr15:85195931 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.847T>G (p.Trp283Gly) | single nucleotide variant | not provided [RCV002846443] | Chr15:84645507 [GRCh38] Chr15:85188738 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.633G>A (p.Pro211=) | single nucleotide variant | not provided [RCV002691057] | Chr15:84645721 [GRCh38] Chr15:85188952 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.37C>T (p.Arg13Cys) | single nucleotide variant | Inborn genetic diseases [RCV002950223] | Chr15:84654238 [GRCh38] Chr15:85197469 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.41+18G>A | single nucleotide variant | not provided [RCV002735987] | Chr15:84654216 [GRCh38] Chr15:85197447 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.517+6G>A | single nucleotide variant | Inborn genetic diseases [RCV002659540]|not provided [RCV002676450] | Chr15:84646178 [GRCh38] Chr15:85189409 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.110-12T>C | single nucleotide variant | not provided [RCV002590837] | Chr15:84652814 [GRCh38] Chr15:85196045 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.695G>C (p.Ser232Thr) | single nucleotide variant | Inborn genetic diseases [RCV002737122] | Chr15:84645659 [GRCh38] Chr15:85188890 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.5A>T (p.Asp2Val) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005008608]|Inborn genetic diseases [RCV003164766]|not provided [RCV002569684] | Chr15:84654270 [GRCh38] Chr15:85197501 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.947G>C (p.Gly316Ala) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005008644]|Inborn genetic diseases [RCV003167445]|not provided [RCV002592977] | Chr15:84643660 [GRCh38] Chr15:85186891 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1090G>A (p.Ala364Thr) | single nucleotide variant | not provided [RCV003100228] | Chr15:84643517 [GRCh38] Chr15:85186748 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.2T>C (p.Met1Thr) | single nucleotide variant | not provided [RCV003035296] | Chr15:84654273 [GRCh38] Chr15:85197504 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.29A>G (p.Glu10Gly) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005002886]|not provided [RCV002800756] | Chr15:84654246 [GRCh38] Chr15:85197477 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.353-16C>G | single nucleotide variant | not provided [RCV002790222] | Chr15:84646364 [GRCh38] Chr15:85189595 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.934C>T (p.Arg312Trp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005010815]|Inborn genetic diseases [RCV002958384]|not provided [RCV002958385] | Chr15:84643673 [GRCh38] Chr15:85186904 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.109G>A (p.Gly37Arg) | single nucleotide variant | not provided [RCV002875646] | Chr15:84653632 [GRCh38] Chr15:85196863 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.494C>G (p.Ser165Cys) | single nucleotide variant | not provided [RCV003005970] | Chr15:84646207 [GRCh38] Chr15:85189438 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.912T>C (p.Asp304=) | single nucleotide variant | not provided [RCV002745523] | Chr15:84643695 [GRCh38] Chr15:85186926 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.287+14T>C | single nucleotide variant | not provided [RCV002790218] | Chr15:84648523 [GRCh38] Chr15:85191754 [GRCh37] Chr15:15q25.2 |
benign |
NM_032856.5(WDR73):c.223A>C (p.Lys75Gln) | single nucleotide variant | Inborn genetic diseases [RCV004068503]|not provided [RCV003007495] | Chr15:84648601 [GRCh38] Chr15:85191832 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.496C>T (p.Arg166Trp) | single nucleotide variant | Inborn genetic diseases [RCV002624729]|not provided [RCV002624728] | Chr15:84646205 [GRCh38] Chr15:85189436 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.517+6G>T | single nucleotide variant | not provided [RCV002700055] | Chr15:84646178 [GRCh38] Chr15:85189409 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.565G>A (p.Asp189Asn) | single nucleotide variant | Inborn genetic diseases [RCV002892673] | Chr15:84645789 [GRCh38] Chr15:85189020 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1133G>A (p.Arg378His) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005008607]|Inborn genetic diseases [RCV004681490]|not provided [RCV002575053] | Chr15:84643474 [GRCh38] Chr15:85186705 [GRCh37] Chr15:15q25.2 |
likely benign|uncertain significance |
NM_032856.5(WDR73):c.732T>G (p.Leu244=) | single nucleotide variant | WDR73-related disorder [RCV004550405]|not provided [RCV003085186] | Chr15:84645622 [GRCh38] Chr15:85188853 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.674_675del (p.Arg225fs) | microsatellite | not provided [RCV002700178] | Chr15:84645679..84645680 [GRCh38] Chr15:85188910..85188911 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.110-11T>G | single nucleotide variant | not provided [RCV002710214] | Chr15:84652813 [GRCh38] Chr15:85196044 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.697T>C (p.Trp233Arg) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005011189]|Inborn genetic diseases [RCV002743731] | Chr15:84645657 [GRCh38] Chr15:85188888 [GRCh37] Chr15:15q25.2 |
likely benign|uncertain significance |
NM_032856.5(WDR73):c.481G>A (p.Val161Ile) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005008623]|Inborn genetic diseases [RCV003164805]|not provided [RCV002572938] | Chr15:84646220 [GRCh38] Chr15:85189451 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.507G>A (p.Thr169=) | single nucleotide variant | WDR73-related disorder [RCV004550425]|not provided [RCV002596007] | Chr15:84646194 [GRCh38] Chr15:85189425 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.56A>G (p.Tyr19Cys) | single nucleotide variant | not provided [RCV002791053] | Chr15:84653685 [GRCh38] Chr15:85196916 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.353-7C>T | single nucleotide variant | not provided [RCV002667670] | Chr15:84646355 [GRCh38] Chr15:85189586 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003138437]|not provided [RCV003005449] | Chr15:84647896 [GRCh38] Chr15:85191127 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.5A>G (p.Asp2Gly) | single nucleotide variant | not provided [RCV003046563] | Chr15:84654270 [GRCh38] Chr15:85197501 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.8C>G (p.Pro3Arg) | single nucleotide variant | Inborn genetic diseases [RCV002793010]|not provided [RCV005099667] | Chr15:84654267 [GRCh38] Chr15:85197498 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.540G>A (p.Leu180=) | single nucleotide variant | not provided [RCV002714851] | Chr15:84645814 [GRCh38] Chr15:85189045 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.632C>T (p.Pro211Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005010949]|Inborn genetic diseases [RCV004071633]|not provided [RCV003065605] | Chr15:84645722 [GRCh38] Chr15:85188953 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.12G>A (p.Gly4=) | single nucleotide variant | not provided [RCV002630241] | Chr15:84654263 [GRCh38] Chr15:85197494 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.154C>T (p.Leu52Phe) | single nucleotide variant | Inborn genetic diseases [RCV002807740] | Chr15:84652758 [GRCh38] Chr15:85195989 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1132C>A (p.Arg378Ser) | single nucleotide variant | not provided [RCV002578485] | Chr15:84643475 [GRCh38] Chr15:85186706 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.616C>T (p.Arg206Trp) | single nucleotide variant | Inborn genetic diseases [RCV004681504]|not provided [RCV002598248] | Chr15:84645738 [GRCh38] Chr15:85188969 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.857G>T (p.Gly286Val) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005010981]|Inborn genetic diseases [RCV003086107]|not provided [RCV003086108] | Chr15:84645497 [GRCh38] Chr15:85188728 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.467G>A (p.Arg156Gln) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005006612]|Inborn genetic diseases [RCV004967422] | Chr15:84646234 [GRCh38] Chr15:85189465 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.567C>T (p.Asp189=) | single nucleotide variant | not provided [RCV002603735] | Chr15:84645787 [GRCh38] Chr15:85189018 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.14A>G (p.Asp5Gly) | single nucleotide variant | not provided [RCV002725915] | Chr15:84654261 [GRCh38] Chr15:85197492 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.109+18C>T | single nucleotide variant | not provided [RCV002814968] | Chr15:84653614 [GRCh38] Chr15:85196845 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.288-6dup | duplication | WDR73-related disorder [RCV004550376]|not provided [RCV003067680] | Chr15:84647959..84647960 [GRCh38] Chr15:85191190..85191191 [GRCh37] Chr15:15q25.2 |
benign|likely benign |
NM_032856.5(WDR73):c.1073T>C (p.Leu358Ser) | single nucleotide variant | Inborn genetic diseases [RCV002677576]|not provided [RCV004812475] | Chr15:84643534 [GRCh38] Chr15:85186765 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.432A>T (p.Thr144=) | single nucleotide variant | not provided [RCV002604756] | Chr15:84646269 [GRCh38] Chr15:85189500 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.198+7T>C | single nucleotide variant | not provided [RCV002653115] | Chr15:84652707 [GRCh38] Chr15:85195938 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.916A>G (p.Thr306Ala) | single nucleotide variant | not provided [RCV002589786] | Chr15:84643691 [GRCh38] Chr15:85186922 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.459G>A (p.Ala153=) | single nucleotide variant | not provided [RCV002590242] | Chr15:84646242 [GRCh38] Chr15:85189473 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.104A>G (p.Asp35Gly) | single nucleotide variant | Inborn genetic diseases [RCV002814038] | Chr15:84653637 [GRCh38] Chr15:85196868 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.41+11C>T | single nucleotide variant | not provided [RCV002608962] | Chr15:84654223 [GRCh38] Chr15:85197454 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.517+19C>T | single nucleotide variant | not provided [RCV002653105] | Chr15:84646165 [GRCh38] Chr15:85189396 [GRCh37] Chr15:15q25.2 |
likely benign |
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 | copy number gain | not provided [RCV003222839] | Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1 |
pathogenic |
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 | copy number gain | not provided [RCV003222840] | Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
NM_032856.5(WDR73):c.731T>C (p.Leu244Pro) | single nucleotide variant | Inborn genetic diseases [RCV003199374] | Chr15:84645623 [GRCh38] Chr15:85188854 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003139336]|Inborn genetic diseases [RCV004963573] | Chr15:84645609 [GRCh38] Chr15:85188840 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.875C>T (p.Ala292Val) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003139337] | Chr15:84645479 [GRCh38] Chr15:85188710 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003139338] | Chr15:84643501 [GRCh38] Chr15:85186732 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003139339]|not provided [RCV004790486] | Chr15:84645711 [GRCh38] Chr15:85188942 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.41+1G>C | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV003142663] | Chr15:84654233 [GRCh38] Chr15:85197464 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 | copy number gain | See cases [RCV003329502] | Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3 |
pathogenic |
NM_032856.5(WDR73):c.6_9del (p.Asp2fs) | deletion | Galloway-Mowat syndrome 1 [RCV003447728] | Chr15:84654266..84654269 [GRCh38] Chr15:85197497..85197500 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
GRCh37/hg19 15q25.2-25.3(chr15:85084471-85724984)x3 | copy number gain | not provided [RCV003485075] | Chr15:85084471..85724984 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3 | copy number gain | not provided [RCV003485074] | Chr15:83169558..85779567 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.1002T>C (p.Asp334=) | single nucleotide variant | not provided [RCV003724665] | Chr15:84643605 [GRCh38] Chr15:85186836 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1053C>G (p.Pro351=) | single nucleotide variant | not provided [RCV003561694] | Chr15:84643554 [GRCh38] Chr15:85186785 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.900C>T (p.Val300=) | single nucleotide variant | not provided [RCV003702753] | Chr15:84643707 [GRCh38] Chr15:85186938 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.915C>A (p.Ala305=) | single nucleotide variant | not provided [RCV003838632] | Chr15:84643692 [GRCh38] Chr15:85186923 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.956G>A (p.Ser319Asn) | single nucleotide variant | not provided [RCV003718035] | Chr15:84643651 [GRCh38] Chr15:85186882 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.990C>T (p.His330=) | single nucleotide variant | not provided [RCV003724985] | Chr15:84643617 [GRCh38] Chr15:85186848 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.110-19C>T | single nucleotide variant | not provided [RCV003711985] | Chr15:84652821 [GRCh38] Chr15:85196052 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1018C>A (p.Pro340Thr) | single nucleotide variant | not provided [RCV003566293] | Chr15:84643589 [GRCh38] Chr15:85186820 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.42-15G>A | single nucleotide variant | not provided [RCV003680159] | Chr15:84653714 [GRCh38] Chr15:85196945 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.465C>T (p.Leu155=) | single nucleotide variant | not provided [RCV003680593] | Chr15:84646236 [GRCh38] Chr15:85189467 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.392A>G (p.Lys131Arg) | single nucleotide variant | not provided [RCV003865323] | Chr15:84646309 [GRCh38] Chr15:85189540 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.24G>A (p.Leu8=) | single nucleotide variant | not provided [RCV003722814] | Chr15:84654251 [GRCh38] Chr15:85197482 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.989A>G (p.His330Arg) | single nucleotide variant | not provided [RCV003676381] | Chr15:84643618 [GRCh38] Chr15:85186849 [GRCh37] Chr15:15q25.2 |
uncertain significance |
GRCh37/hg19 15q25.2-25.3(chr15:84910816-85790661)x1 | copy number loss | not provided [RCV004442753] | Chr15:84910816..85790661 [GRCh37] Chr15:15q25.2-25.3 |
uncertain significance |
NM_032856.5(WDR73):c.1038C>T (p.Thr346=) | single nucleotide variant | WDR73-related disorder [RCV004552661] | Chr15:84643569 [GRCh38] Chr15:85186800 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.714G>C (p.Gly238=) | single nucleotide variant | WDR73-related disorder [RCV004548928] | Chr15:84645640 [GRCh38] Chr15:85188871 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.828A>G (p.Pro276=) | single nucleotide variant | WDR73-related disorder [RCV004554428] | Chr15:84645526 [GRCh38] Chr15:85188757 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.293_334del (p.Leu98_Trp111del) | deletion | Galloway-Mowat syndrome [RCV004556122] | Chr15:84647908..84647949 [GRCh38] Chr15:85191139..85191180 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.149A>G (p.Glu50Gly) | single nucleotide variant | Inborn genetic diseases [RCV004480650] | Chr15:84652763 [GRCh38] Chr15:85195994 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.295G>C (p.Val99Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005006419]|Inborn genetic diseases [RCV004480652] | Chr15:84647947 [GRCh38] Chr15:85191178 [GRCh37] Chr15:15q25.2 |
likely benign|uncertain significance |
NM_032856.5(WDR73):c.442G>A (p.Gly148Arg) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005006420]|Inborn genetic diseases [RCV004480653] | Chr15:84646259 [GRCh38] Chr15:85189490 [GRCh37] Chr15:15q25.2 |
likely benign|uncertain significance |
NM_032856.5(WDR73):c.76G>A (p.Ala26Thr) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005006421]|Inborn genetic diseases [RCV004480654] | Chr15:84653665 [GRCh38] Chr15:85196896 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.281A>T (p.His94Leu) | single nucleotide variant | not provided [RCV004698248] | Chr15:84648543 [GRCh38] Chr15:85191774 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.957C>A (p.Ser319Arg) | single nucleotide variant | Inborn genetic diseases [RCV004678330] | Chr15:84643650 [GRCh38] Chr15:85186881 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.7C>T (p.Pro3Ser) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005006486]|Inborn genetic diseases [RCV004678331] | Chr15:84654268 [GRCh38] Chr15:85197499 [GRCh37] Chr15:15q25.2 |
likely benign|uncertain significance |
NM_032856.5(WDR73):c.82C>G (p.Arg28Gly) | single nucleotide variant | Inborn genetic diseases [RCV004678332] | Chr15:84653659 [GRCh38] Chr15:85196890 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.285_287+1dup | duplication | Galloway-Mowat syndrome 1 [RCV004595832] | Chr15:84648535..84648536 [GRCh38] Chr15:85191766..85191767 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.42G>C (p.Leu14Phe) | single nucleotide variant | not provided [RCV004778865] | Chr15:84653699 [GRCh38] Chr15:85196930 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1048C>T (p.His350Tyr) | single nucleotide variant | not provided [RCV004794108] | Chr15:84643559 [GRCh38] Chr15:85186790 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.475C>T (p.Gln159Ter) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV004776332] | Chr15:84646226 [GRCh38] Chr15:85189457 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.1127C>T (p.Ala376Val) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012007] | Chr15:84643480 [GRCh38] Chr15:85186711 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1118A>G (p.Asp373Gly) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012008] | Chr15:84643489 [GRCh38] Chr15:85186720 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1086_1089delinsCAGCA (p.Asp363fs) | indel | Galloway-Mowat syndrome 1 [RCV005012009] | Chr15:84643518..84643521 [GRCh38] Chr15:85186749..85186752 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.1087G>A (p.Asp363Asn) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012010] | Chr15:84643520 [GRCh38] Chr15:85186751 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.190G>A (p.Glu64Lys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012043] | Chr15:84652722 [GRCh38] Chr15:85195953 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.124G>A (p.Gly42Ser) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012045] | Chr15:84652788 [GRCh38] Chr15:85196019 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.91G>C (p.Glu31Gln) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012046] | Chr15:84653650 [GRCh38] Chr15:85196881 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.89T>C (p.Leu30Pro) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012048] | Chr15:84653652 [GRCh38] Chr15:85196883 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.85G>C (p.Val29Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012049] | Chr15:84653656 [GRCh38] Chr15:85196887 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.48G>C (p.Gln16His) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012050] | Chr15:84653693 [GRCh38] Chr15:85196924 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.32C>G (p.Ser11Cys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012051] | Chr15:84654243 [GRCh38] Chr15:85197474 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1019C>G (p.Pro340Arg) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012013] | Chr15:84643588 [GRCh38] Chr15:85186819 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.882A>G (p.Ser294=) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012019] | Chr15:84645472 [GRCh38] Chr15:85188703 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.881C>T (p.Ser294Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012020] | Chr15:84645473 [GRCh38] Chr15:85188704 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.563C>G (p.Ala188Gly) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012031] | Chr15:84645791 [GRCh38] Chr15:85189022 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.534G>C (p.Glu178Asp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012033] | Chr15:84645820 [GRCh38] Chr15:85189051 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.509A>G (p.Tyr170Cys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012035] | Chr15:84646192 [GRCh38] Chr15:85189423 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.328G>A (p.Val110Met) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012040] | Chr15:84647914 [GRCh38] Chr15:85191145 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.152T>C (p.Ile51Thr) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012044] | Chr15:84652760 [GRCh38] Chr15:85195991 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.6T>G (p.Asp2Glu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012052] | Chr15:84654269 [GRCh38] Chr15:85197500 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.5A>C (p.Asp2Ala) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012053] | Chr15:84654270 [GRCh38] Chr15:85197501 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.691G>A (p.Gly231Arg) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012025] | Chr15:84645663 [GRCh38] Chr15:85188894 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.664G>T (p.Gly222Cys) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012028] | Chr15:84645690 [GRCh38] Chr15:85188921 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.478G>T (p.Val160Phe) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012036] | Chr15:84646223 [GRCh38] Chr15:85189454 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.379G>A (p.Ala127Thr) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012038] | Chr15:84646322 [GRCh38] Chr15:85189553 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.353-13C>T | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012039] | Chr15:84646361 [GRCh38] Chr15:85189592 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.962T>G (p.Val321Gly) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012015] | Chr15:84643645 [GRCh38] Chr15:85186876 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1063A>G (p.Arg355Gly) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012011] | Chr15:84643544 [GRCh38] Chr15:85186775 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1025C>T (p.Pro342Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012012] | Chr15:84643582 [GRCh38] Chr15:85186813 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.986G>A (p.Gly329Asp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012014] | Chr15:84643621 [GRCh38] Chr15:85186852 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.953G>A (p.Arg318Gln) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012017] | Chr15:84643654 [GRCh38] Chr15:85186885 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.934_952delinsT (p.Arg312_Arg318delinsTrp) | indel | Galloway-Mowat syndrome 1 [RCV005012018] | Chr15:84643655..84643673 [GRCh38] Chr15:85186886..85186904 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.800G>A (p.Cys267Tyr) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012021] | Chr15:84645554 [GRCh38] Chr15:85188785 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.720C>G (p.Ser240Arg) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012022] | Chr15:84645634 [GRCh38] Chr15:85188865 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.716C>T (p.Pro239Leu) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012023] | Chr15:84645638 [GRCh38] Chr15:85188869 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.687A>T (p.Glu229Asp) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012026] | Chr15:84645667 [GRCh38] Chr15:85188898 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.665G>T (p.Gly222Val) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012027] | Chr15:84645689 [GRCh38] Chr15:85188920 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.656_658del (p.Pro219_Gly220delinsArg) | deletion | Galloway-Mowat syndrome 1 [RCV005012029] | Chr15:84645696..84645698 [GRCh38] Chr15:85188927..85188929 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.641A>G (p.Asn214Ser) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012030] | Chr15:84645713 [GRCh38] Chr15:85188944 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.559G>A (p.Asp187Asn) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012032] | Chr15:84645795 [GRCh38] Chr15:85189026 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.516A>C (p.Ser172=) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012034] | Chr15:84646185 [GRCh38] Chr15:85189416 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.388_391del (p.Glu130fs) | deletion | Galloway-Mowat syndrome 1 [RCV005012037] | Chr15:84646310..84646313 [GRCh38] Chr15:85189541..85189544 [GRCh37] Chr15:15q25.2 |
likely pathogenic |
NM_032856.5(WDR73):c.274G>A (p.Val92Met) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012041] | Chr15:84648550 [GRCh38] Chr15:85191781 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.256A>G (p.Ile86Val) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005012042] | Chr15:84648568 [GRCh38] Chr15:85191799 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.1034C>T (p.Thr345Ile) | single nucleotide variant | Inborn genetic diseases [RCV004967423] | Chr15:84643573 [GRCh38] Chr15:85186804 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.14A>T (p.Asp5Val) | single nucleotide variant | Galloway-Mowat syndrome 1 [RCV005003231] | Chr15:84654261 [GRCh38] Chr15:85197492 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.898G>A (p.Val300Ile) | single nucleotide variant | Inborn genetic diseases [RCV004967424] | Chr15:84643709 [GRCh38] Chr15:85186940 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.517+15T>C | single nucleotide variant | not provided [RCV005060330] | Chr15:84646169 [GRCh38] Chr15:85189400 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.466C>T (p.Arg156Ter) | single nucleotide variant | not provided [RCV005088667] | Chr15:84646235 [GRCh38] Chr15:85189466 [GRCh37] Chr15:15q25.2 |
pathogenic |
NM_032856.5(WDR73):c.599T>C (p.Leu200Pro) | single nucleotide variant | not specified [RCV005088524] | Chr15:84645755 [GRCh38] Chr15:85188986 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.109+20C>T | single nucleotide variant | not provided [RCV005161964] | Chr15:84653612 [GRCh38] Chr15:85196843 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.353-6C>T | single nucleotide variant | not provided [RCV005167012] | Chr15:84646354 [GRCh38] Chr15:85189585 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.1041C>T (p.His347=) | single nucleotide variant | not provided [RCV005138215] | Chr15:84643566 [GRCh38] Chr15:85186797 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.420C>T (p.Ala140=) | single nucleotide variant | not provided [RCV005083622] | Chr15:84646281 [GRCh38] Chr15:85189512 [GRCh37] Chr15:15q25.2 |
likely benign |
NM_032856.5(WDR73):c.230G>A (p.Arg77His) | single nucleotide variant | not provided [RCV005187988] | Chr15:84648594 [GRCh38] Chr15:85191825 [GRCh37] Chr15:15q25.2 |
uncertain significance |
NM_032856.5(WDR73):c.109+7T>C | single nucleotide variant | not provided [RCV005185153] | Chr15:84653625 [GRCh38] Chr15:85196856 [GRCh37] Chr15:15q25.2 |
likely benign |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D2S2557 |
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D11S3114 |
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GDB:434012 |
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D8S2279 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4973 | 1726 | 2351 | 6 | 624 | 1950 | 465 | 2269 | 7305 | 6471 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_042034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_032856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_130944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_130945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_130946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_130947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001751407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001751408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_243214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC048382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC244519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF161382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK055578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK055729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK090406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC050648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM050710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM875282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU601517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX446522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD514627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN481562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX867053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000398528 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000434634 ⟹ ENSP00000387982 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000558019 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000558487 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000558521 ⟹ ENSP00000453732 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000558608 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000559015 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000559126 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000559178 ⟹ ENSP00000453204 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000559224 ⟹ ENSP00000453779 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000559452 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000559877 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000559994 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000560088 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000560182 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000560252 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000560835 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000560966 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000561329 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000561434 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000561447 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_032856 ⟹ NP_116245 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_130944 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_130945 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_130946 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_130947 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
Protein RefSeqs | NP_116245 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAF28942 | (Get FASTA) | NCBI Sequence Viewer |
AAH14115 | (Get FASTA) | NCBI Sequence Viewer | |
AAH50648 | (Get FASTA) | NCBI Sequence Viewer | |
AAH63392 | (Get FASTA) | NCBI Sequence Viewer | |
BAB55373 | (Get FASTA) | NCBI Sequence Viewer | |
BAC03387 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51562 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58332 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01945 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01946 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01947 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01948 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01949 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000387982 | ||
ENSP00000387982.3 | |||
ENSP00000453204.1 | |||
ENSP00000453732.1 | |||
ENSP00000453779.1 | |||
ENSP00000517130.1 | |||
ENSP00000517131.1 | |||
ENSP00000517132.1 | |||
ENSP00000517133.1 | |||
GenBank Protein | Q6P4I2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_116245 ⟸ NM_032856 |
- UniProtKB: | Q96JZ1 (UniProtKB/Swiss-Prot), Q9P0B7 (UniProtKB/Swiss-Prot), Q6P4I2 (UniProtKB/Swiss-Prot), Q6PJL8 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000453732 ⟸ ENST00000558521 |
Ensembl Acc Id: | ENSP00000453779 ⟸ ENST00000559224 |
Ensembl Acc Id: | ENSP00000453204 ⟸ ENST00000559178 |
Ensembl Acc Id: | ENSP00000387982 ⟸ ENST00000434634 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6P4I2-F1-model_v2 | AlphaFold | Q6P4I2 | 1-378 | view protein structure |
RGD ID: | 6792350 | ||||||||
Promoter ID: | HG_KWN:22225 | ||||||||
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: | ENST00000323189, ENST00000398528, NM_032856, UC002BKX.1 | ||||||||
Position: |
|
RGD ID: | 7230387 | ||||||||
Promoter ID: | EPDNEW_H20939 | ||||||||
Type: | initiation region | ||||||||
Name: | WDR73_1 | ||||||||
Description: | WD repeat domain 73 | ||||||||
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:25928 | AgrOrtholog |
COSMIC | WDR73 | COSMIC |
Ensembl Genes | ENSG00000177082 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSG00000291629 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000434634 | ENTREZGENE |
ENST00000434634.7 | UniProtKB/Swiss-Prot | |
ENST00000558521.5 | UniProtKB/TrEMBL | |
ENST00000559178.5 | UniProtKB/TrEMBL | |
ENST00000559224.5 | UniProtKB/TrEMBL | |
ENST00000708214.1 | UniProtKB/Swiss-Prot | |
ENST00000708221.1 | UniProtKB/TrEMBL | |
ENST00000708222.1 | UniProtKB/TrEMBL | |
ENST00000708225.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.130.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000177082 | GTEx |
ENSG00000291629 | GTEx | |
HGNC ID | HGNC:25928 | ENTREZGENE |
Human Proteome Map | WDR73 | Human Proteome Map |
InterPro | WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
WD40_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD40_repeat_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Wdr73 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:84942 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 84942 | ENTREZGENE |
OMIM | 616144 | OMIM |
PANTHER | PTHR46947 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
WD REPEAT-CONTAINING PROTEIN 73 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA142670588 | PharmGKB |
RNAcentral | URS0000D6E586 | RNACentral |
URS0000EAFB9B | RNACentral | |
URS00027E7F1D | RNACentral | |
SMART | WD40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF50978 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B3KP50_HUMAN | UniProtKB/TrEMBL |
H0YLH0_HUMAN | UniProtKB/TrEMBL | |
H0YMT3_HUMAN | UniProtKB/TrEMBL | |
H0YMX2_HUMAN | UniProtKB/TrEMBL | |
Q5RKY8_HUMAN | UniProtKB/TrEMBL | |
Q6P4I2 | ENTREZGENE | |
Q6PJL8 | ENTREZGENE, UniProtKB/TrEMBL | |
Q96JZ1 | ENTREZGENE | |
Q9P0B7 | ENTREZGENE | |
WDR73_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q96JZ1 | UniProtKB/Swiss-Prot |
Q9P0B7 | UniProtKB/Swiss-Prot |