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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MRPS7 | Human | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21466612 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MRPS7 | Human | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21466612 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8125298 | PMID:8889548 | PMID:10581179 | PMID:11042152 | PMID:11279123 | PMID:11402041 | PMID:11543634 | PMID:12477932 | PMID:12706105 | PMID:15342556 | PMID:15489334 | PMID:16196087 |
PMID:17353931 | PMID:18029348 | PMID:20186120 | PMID:20360068 | PMID:20877624 | PMID:21081503 | PMID:21145461 | PMID:21873635 | PMID:22658674 | PMID:22681889 | PMID:22904065 | PMID:22939629 |
PMID:23443559 | PMID:23473034 | PMID:23973329 | PMID:24244333 | PMID:24457600 | PMID:24981860 | PMID:25324306 | PMID:25437307 | PMID:25556185 | PMID:25838379 | PMID:25921289 | PMID:26186194 |
PMID:26344197 | PMID:26496610 | PMID:27023846 | PMID:27025967 | PMID:27049334 | PMID:27432908 | PMID:28027390 | PMID:28077445 | PMID:28514442 | PMID:28515276 | PMID:28675297 | PMID:28695742 |
PMID:28712289 | PMID:29229926 | PMID:29395067 | PMID:29467282 | PMID:29568061 | PMID:29576527 | PMID:29721183 | PMID:29802200 | PMID:29845934 | PMID:30463901 | PMID:30471916 | PMID:30833792 |
PMID:31056398 | PMID:31059266 | PMID:31076518 | PMID:31091453 | PMID:31182584 | PMID:31527615 | PMID:31594818 | PMID:31617661 | PMID:31685992 | PMID:31822558 | PMID:31871319 | PMID:31980649 |
PMID:32129710 | PMID:32203420 | PMID:32513696 | PMID:32628020 | PMID:32640226 | PMID:32707033 | PMID:32807901 | PMID:32877691 | PMID:33022573 | PMID:33187986 | PMID:33301849 | PMID:33306668 |
PMID:33378683 | PMID:33499712 | PMID:33658012 | PMID:33729478 | PMID:33957083 | PMID:33961781 | PMID:33989516 | PMID:34079125 | PMID:34091597 | PMID:34159380 | PMID:34349018 | PMID:34373451 |
PMID:34662580 | PMID:34709727 | PMID:34732716 | PMID:34800366 | PMID:35013218 | PMID:35140242 | PMID:35256949 | PMID:35271311 | PMID:35384245 | PMID:35446349 | PMID:35915203 | PMID:35944360 |
PMID:36215168 | PMID:36526897 | PMID:36779763 | PMID:37071682 | PMID:37267103 | PMID:37314180 | PMID:37317656 | PMID:37536630 | PMID:37827155 | PMID:38113892 | PMID:38334954 | PMID:38803224 |
MRPS7 (Homo sapiens - human) |
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Mrps7 (Mus musculus - house mouse) |
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Mrps7 (Rattus norvegicus - Norway rat) |
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Mrps7 (Chinchilla lanigera - long-tailed chinchilla) |
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MRPS7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MRPS7 (Canis lupus familiaris - dog) |
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Mrps7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MRPS7 (Sus scrofa - pig) |
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MRPS7 (Chlorocebus sabaeus - green monkey) |
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Mrps7 (Heterocephalus glaber - naked mole-rat) |
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Variants in MRPS7
84 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 | copy number gain | See cases [RCV000052486] | Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] | Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 | copy number gain | See cases [RCV000143342] | Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 | copy number gain | See cases [RCV000447577] | Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
NM_015971.4(MRPS7):c.47C>T (p.Ala16Val) | single nucleotide variant | not provided [RCV001703605] | Chr17:75261947 [GRCh38] Chr17:73258028 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
NM_015971.4(MRPS7):c.508-10T>C | single nucleotide variant | not specified [RCV000427787] | Chr17:75265692 [GRCh38] Chr17:73261773 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.27C>T (p.Ala9=) | single nucleotide variant | not specified [RCV000438455] | Chr17:75261927 [GRCh38] Chr17:73258008 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.5C>T (p.Ala2Val) | single nucleotide variant | Combined oxidative phosphorylation deficiency 34 [RCV001775790]|not provided [RCV002064923]|not specified [RCV000421254] | Chr17:75261905 [GRCh38] Chr17:73257986 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.84-8C>G | single nucleotide variant | not provided [RCV001703703] | Chr17:75262489 [GRCh38] Chr17:73258570 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.117T>C (p.Pro39=) | single nucleotide variant | not provided [RCV001721471] | Chr17:75262530 [GRCh38] Chr17:73258611 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
NM_015971.4(MRPS7):c.645C>T (p.Asn215=) | single nucleotide variant | not provided [RCV001703700] | Chr17:75265839 [GRCh38] Chr17:73261920 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
NM_015971.4(MRPS7):c.624G>A (p.Lys208=) | single nucleotide variant | not provided [RCV002062283]|not specified [RCV000433197] | Chr17:75265818 [GRCh38] Chr17:73261899 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.84-14T>C | single nucleotide variant | not provided [RCV003766368]|not specified [RCV000422892] | Chr17:75262483 [GRCh38] Chr17:73258564 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.508-4C>T | single nucleotide variant | not specified [RCV000440928] | Chr17:75265698 [GRCh38] Chr17:73261779 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.84-8C>T | single nucleotide variant | MRPS7-related disorder [RCV004758016]|not provided [RCV001704365] | Chr17:75262489 [GRCh38] Chr17:73258570 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 | copy number gain | See cases [RCV000447823] | Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
NM_015971.4(MRPS7):c.84-7dup | duplication | not provided [RCV003766713]|not specified [RCV000487287] | Chr17:75262483..75262484 [GRCh38] Chr17:73258564..73258565 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) | single nucleotide variant | Combined oxidative phosphorylation deficiency 34 [RCV000579388]|See cases [RCV002252171]|not provided [RCV001860020] | Chr17:75265744 [GRCh38] Chr17:73261825 [GRCh37] Chr17:17q25.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3 | copy number gain | not provided [RCV000585184] | Chr17:72901452..73518861 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.334A>G (p.Ile112Val) | single nucleotide variant | not specified [RCV004310866] | Chr17:75262862 [GRCh38] Chr17:73258943 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.507+18G>T | single nucleotide variant | not specified [RCV000610932] | Chr17:75263525 [GRCh38] Chr17:73259606 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.3(MRPS7):c.-50G>A | single nucleotide variant | not specified [RCV000611884] | Chr17:75261851 [GRCh38] Chr17:73257932 [GRCh37] Chr17:17q25.1 |
likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_015971.4(MRPS7):c.66T>C (p.Ala22=) | single nucleotide variant | MRPS7-related disorder [RCV003917926]|not provided [RCV003565435]|not specified [RCV000602192] | Chr17:75261966 [GRCh38] Chr17:73258047 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.654C>G (p.Pro218=) | single nucleotide variant | not specified [RCV000606204] | Chr17:75265848 [GRCh38] Chr17:73261929 [GRCh37] Chr17:17q25.1 |
likely benign |
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 | copy number gain | See cases [RCV000512573] | Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3 | copy number gain | not provided [RCV000683960] | Chr17:72962625..73281784 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3 | copy number gain | not provided [RCV000683961] | Chr17:73057756..73429731 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 | copy number gain | not provided [RCV000683952] | Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q25.1(chr17:73230856-73323772)x3 | copy number gain | not provided [RCV000739670] | Chr17:73230856..73323772 [GRCh37] Chr17:17q25.1 |
benign |
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 | copy number gain | not provided [RCV000762750] | Chr17:64159738..74891024 [GRCh37] Chr17:17q24.1-25.2 |
likely pathogenic |
NM_015971.4(MRPS7):c.83+245T>G | single nucleotide variant | not provided [RCV000830550] | Chr17:75262228 [GRCh38] Chr17:73258309 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.339+153T>C | single nucleotide variant | not provided [RCV000830552] | Chr17:75263020 [GRCh38] Chr17:73259101 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.84-80C>T | single nucleotide variant | not provided [RCV000837917] | Chr17:75262417 [GRCh38] Chr17:73258498 [GRCh37] Chr17:17q25.1 |
likely benign |
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 | copy number gain | not provided [RCV001006919] | Chr17:73261871..78608763 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_015971.4(MRPS7):c.84-74T>C | single nucleotide variant | not provided [RCV000837050] | Chr17:75262423 [GRCh38] Chr17:73258504 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.83+22G>C | single nucleotide variant | not provided [RCV000835553] | Chr17:75262005 [GRCh38] Chr17:73258086 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.83+23C>G | single nucleotide variant | Combined oxidative phosphorylation deficiency 34 [RCV001776055]|not provided [RCV000835554] | Chr17:75262006 [GRCh38] Chr17:73258087 [GRCh37] Chr17:17q25.1 |
benign |
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 | copy number gain | not provided [RCV000849900] | Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
NM_015971.4(MRPS7):c.83+23del | deletion | not provided [RCV001610165] | Chr17:75262006 [GRCh38] Chr17:73258087 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.84-99C>T | single nucleotide variant | not provided [RCV001682511] | Chr17:75262398 [GRCh38] Chr17:73258479 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.655G>A (p.Val219Met) | single nucleotide variant | not specified [RCV004289430] | Chr17:75265849 [GRCh38] Chr17:73261930 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.83+29G>T | single nucleotide variant | not provided [RCV001720805] | Chr17:75262012 [GRCh38] Chr17:73258093 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.*289T>C | single nucleotide variant | not provided [RCV001669376] | Chr17:75266212 [GRCh38] Chr17:73262293 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.83+21_83+22del | deletion | not provided [RCV001657665] | Chr17:75262004..75262005 [GRCh38] Chr17:73258085..73258086 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.339+214dup | duplication | not provided [RCV001710905] | Chr17:75263072..75263073 [GRCh38] Chr17:73259153..73259154 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.593G>A (p.Arg198Gln) | single nucleotide variant | MRPS7-related disorder [RCV003941058]|not provided [RCV001658402] | Chr17:75265787 [GRCh38] Chr17:73261868 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
NM_015971.4(MRPS7):c.83+137G>T | single nucleotide variant | not provided [RCV001669061] | Chr17:75262120 [GRCh38] Chr17:73258201 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.339+135C>T | single nucleotide variant | not provided [RCV001682571] | Chr17:75263002 [GRCh38] Chr17:73259083 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.3(MRPS7):c.-169G>T | single nucleotide variant | not provided [RCV001614050] | Chr17:75261732 [GRCh38] Chr17:73257813 [GRCh37] Chr17:17q25.1 |
benign |
GRCh37/hg19 17q25.1(chr17:73218219-73443987)x3 | copy number gain | not provided [RCV001006918] | Chr17:73218219..73443987 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3 | copy number gain | not provided [RCV001006917] | Chr17:72945415..73414786 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.508-1G>A | single nucleotide variant | Combined oxidative phosphorylation deficiency 34 [RCV001330695] | Chr17:75265701 [GRCh38] Chr17:73261782 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.83+23_83+24del | deletion | Combined oxidative phosphorylation deficiency 34 [RCV001776277]|not provided [RCV001674993] | Chr17:75262005..75262006 [GRCh38] Chr17:73258086..73258087 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.688G>A (p.Ala230Thr) | single nucleotide variant | not provided [RCV001755355] | Chr17:75265882 [GRCh38] Chr17:73261963 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.*266T>C | single nucleotide variant | not provided [RCV001768093] | Chr17:75266189 [GRCh38] Chr17:73262270 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.507+248T>C | single nucleotide variant | not provided [RCV001769623] | Chr17:75263755 [GRCh38] Chr17:73259836 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.576G>T (p.Arg192=) | single nucleotide variant | MRPS7-related disorder [RCV003931326]|not provided [RCV001767957] | Chr17:75265770 [GRCh38] Chr17:73261851 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.83+22dup | duplication | not provided [RCV001752964] | Chr17:75262003..75262004 [GRCh38] Chr17:73258084..73258085 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.508-146C>T | single nucleotide variant | not provided [RCV001768141] | Chr17:75265556 [GRCh38] Chr17:73261637 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.83+23C>T | single nucleotide variant | not provided [RCV001757557] | Chr17:75262006 [GRCh38] Chr17:73258087 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.84-8C>A | single nucleotide variant | not provided [RCV001755602] | Chr17:75262489 [GRCh38] Chr17:73258570 [GRCh37] Chr17:17q25.1 |
benign|likely benign |
GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3 | copy number gain | not provided [RCV001827813] | Chr17:73045938..73310951 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:73049227-73533226) | copy number loss | not specified [RCV002052605] | Chr17:73049227..73533226 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NC_000017.10:g.(?_73204602)_(73515148_?)dup | duplication | not provided [RCV001888427] | Chr17:73204602..73515148 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.526G>T (p.Asp176Tyr) | single nucleotide variant | not provided [RCV001887789] | Chr17:75265720 [GRCh38] Chr17:73261801 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.536G>A (p.Arg179His) | single nucleotide variant | Sensorineural hearing loss disorder [RCV003153251]|not provided [RCV002046962]|not specified [RCV004038841] | Chr17:75265730 [GRCh38] Chr17:73261811 [GRCh37] Chr17:17q25.1 |
likely pathogenic|uncertain significance |
NM_015971.4(MRPS7):c.339+12T>C | single nucleotide variant | not provided [RCV002091941] | Chr17:75262879 [GRCh38] Chr17:73258960 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.123C>T (p.Phe41=) | single nucleotide variant | not provided [RCV002154619] | Chr17:75262536 [GRCh38] Chr17:73258617 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.522A>C (p.Leu174=) | single nucleotide variant | not provided [RCV002135776] | Chr17:75265716 [GRCh38] Chr17:73261797 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.574C>T (p.Arg192Trp) | single nucleotide variant | not specified [RCV004213014] | Chr17:75265768 [GRCh38] Chr17:73261849 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.539G>A (p.Arg180His) | single nucleotide variant | not provided [RCV002617683] | Chr17:75265733 [GRCh38] Chr17:73261814 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.341C>T (p.Thr114Ile) | single nucleotide variant | not specified [RCV004131380] | Chr17:75263341 [GRCh38] Chr17:73259422 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.268G>A (p.Val90Ile) | single nucleotide variant | not provided [RCV002949334] | Chr17:75262681 [GRCh38] Chr17:73258762 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.428C>G (p.Thr143Ser) | single nucleotide variant | MRPS7-related disorder [RCV003936585]|not provided [RCV002619137] | Chr17:75263428 [GRCh38] Chr17:73259509 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.80C>T (p.Pro27Leu) | single nucleotide variant | not specified [RCV004151745] | Chr17:75261980 [GRCh38] Chr17:73258061 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.224A>T (p.Lys75Ile) | single nucleotide variant | not provided [RCV002699992] | Chr17:75262637 [GRCh38] Chr17:73258718 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.251C>T (p.Ser84Phe) | single nucleotide variant | not specified [RCV004121607] | Chr17:75262664 [GRCh38] Chr17:73258745 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.385G>A (p.Ala129Thr) | single nucleotide variant | not provided [RCV002575665] | Chr17:75263385 [GRCh38] Chr17:73259466 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.199G>C (p.Glu67Gln) | single nucleotide variant | not provided [RCV002937356]|not specified [RCV004066267] | Chr17:75262612 [GRCh38] Chr17:73258693 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.533G>A (p.Arg178His) | single nucleotide variant | not provided [RCV002933897] | Chr17:75265727 [GRCh38] Chr17:73261808 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.597A>G (p.Thr199=) | single nucleotide variant | not provided [RCV003045467] | Chr17:75265791 [GRCh38] Chr17:73261872 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.21G>C (p.Lys7Asn) | single nucleotide variant | not provided [RCV002578562] | Chr17:75261921 [GRCh38] Chr17:73258002 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.575G>A (p.Arg192Gln) | single nucleotide variant | not provided [RCV002603431]|not specified [RCV004069031] | Chr17:75265769 [GRCh38] Chr17:73261850 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.508-6A>G | single nucleotide variant | not provided [RCV003051344] | Chr17:75265696 [GRCh38] Chr17:73261777 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.294G>A (p.Met98Ile) | single nucleotide variant | not provided [RCV002657775] | Chr17:75262822 [GRCh38] Chr17:73258903 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.144G>C (p.Lys48Asn) | single nucleotide variant | not specified [RCV004280473] | Chr17:75262557 [GRCh38] Chr17:73258638 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1 | copy number loss | not provided [RCV003222940] | Chr17:72864876..73328878 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter) | single nucleotide variant | Sensorineural hearing loss disorder [RCV003153253] | Chr17:75263373 [GRCh38] Chr17:73259454 [GRCh37] Chr17:17q25.1 |
likely pathogenic |
GRCh37/hg19 17q25.1(chr17:72718277-74142256) | copy number gain | 7q11.23 microduplication syndrome [RCV003325440] | Chr17:72718277..74142256 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_015971.4(MRPS7):c.25G>A (p.Ala9Thr) | single nucleotide variant | not provided [RCV003873401] | Chr17:75261925 [GRCh38] Chr17:73258006 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.62G>A (p.Arg21Gln) | single nucleotide variant | not provided [RCV003722566] | Chr17:75261962 [GRCh38] Chr17:73258043 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3 | copy number gain | not provided [RCV003485163] | Chr17:73259444..73533226 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.699C>T (p.Asn233=) | single nucleotide variant | not provided [RCV003428468] | Chr17:75265893 [GRCh38] Chr17:73261974 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.84-7C>A | single nucleotide variant | not provided [RCV003811032] | Chr17:75262490 [GRCh38] Chr17:73258571 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.339+16C>T | single nucleotide variant | not provided [RCV003817396] | Chr17:75262883 [GRCh38] Chr17:73258964 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.704C>T (p.Ala235Val) | single nucleotide variant | not provided [RCV003725342] | Chr17:75265898 [GRCh38] Chr17:73261979 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.582A>G (p.Lys194=) | single nucleotide variant | not provided [RCV003839518] | Chr17:75265776 [GRCh38] Chr17:73261857 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.275+20_275+21del | deletion | not provided [RCV003672278] | Chr17:75262708..75262709 [GRCh38] Chr17:73258789..73258790 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.83+23_83+25del | microsatellite | not provided [RCV003858289] | Chr17:75262002..75262004 [GRCh38] Chr17:73258083..73258085 [GRCh37] Chr17:17q25.1 |
benign |
NM_015971.4(MRPS7):c.701G>A (p.Arg234His) | single nucleotide variant | not provided [RCV003557039] | Chr17:75265895 [GRCh38] Chr17:73261976 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.605C>T (p.Pro202Leu) | single nucleotide variant | not provided [RCV003550771] | Chr17:75265799 [GRCh38] Chr17:73261880 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3 | copy number gain | not specified [RCV003987236] | Chr17:72875847..73484159 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.95T>G (p.Val32Gly) | single nucleotide variant | not provided [RCV003858795] | Chr17:75262508 [GRCh38] Chr17:73258589 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.412G>A (p.Glu138Lys) | single nucleotide variant | not provided [RCV003729253] | Chr17:75263412 [GRCh38] Chr17:73259493 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.339+16del | deletion | not provided [RCV003847611] | Chr17:75262881 [GRCh38] Chr17:73258962 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.189A>G (p.Lys63=) | single nucleotide variant | not provided [RCV003728227] | Chr17:75262602 [GRCh38] Chr17:73258683 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.83+16G>T | single nucleotide variant | not provided [RCV003853927] | Chr17:75261999 [GRCh38] Chr17:73258080 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.686T>C (p.Met229Thr) | single nucleotide variant | not provided [RCV003860006] | Chr17:75265880 [GRCh38] Chr17:73261961 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.438T>C (p.His146=) | single nucleotide variant | MRPS7-related disorder [RCV003952109] | Chr17:75263438 [GRCh38] Chr17:73259519 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.513T>C (p.Pro171=) | single nucleotide variant | MRPS7-related disorder [RCV003957142] | Chr17:75265707 [GRCh38] Chr17:73261788 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.404C>A (p.Ala135Glu) | single nucleotide variant | not specified [RCV004498089] | Chr17:75263404 [GRCh38] Chr17:73259485 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.652C>T (p.Pro218Ser) | single nucleotide variant | not specified [RCV004498106] | Chr17:75265846 [GRCh38] Chr17:73261927 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.11C>G (p.Pro4Arg) | single nucleotide variant | not specified [RCV004498072] | Chr17:75261911 [GRCh38] Chr17:73257992 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.538C>T (p.Arg180Cys) | single nucleotide variant | not specified [RCV004498095] | Chr17:75265732 [GRCh38] Chr17:73261813 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.523C>G (p.Pro175Ala) | single nucleotide variant | not specified [RCV004498091] | Chr17:75265717 [GRCh38] Chr17:73261798 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.538C>G (p.Arg180Gly) | single nucleotide variant | not specified [RCV004638270] | Chr17:75265732 [GRCh38] Chr17:73261813 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_015971.4(MRPS7):c.530G>A (p.Arg177Gln) | single nucleotide variant | not specified [RCV004638271] | Chr17:75265724 [GRCh38] Chr17:73261805 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_015971.4(MRPS7):c.457G>A (p.Glu153Lys) | single nucleotide variant | not specified [RCV004638269] | Chr17:75263457 [GRCh38] Chr17:73259538 [GRCh37] Chr17:17q25.1 |
uncertain significance |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
MRPS7_2936 |
|
||||||||||||||||||||||||||||||||||||||||
RH47314 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4973 | 1726 | 2351 | 5 | 624 | 1951 | 465 | 2269 | 7305 | 6471 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NM_015971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB051348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC022211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF077042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK222995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC050641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG034193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP379038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU599633 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU684092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000245539 ⟹ ENSP00000245539 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000577767 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000579002 ⟹ ENSP00000463683 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000579761 ⟹ ENSP00000463263 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000581993 ⟹ ENSP00000463870 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000583407 ⟹ ENSP00000462677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000584678 ⟹ ENSP00000462506 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_015971 ⟹ NP_057055 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_057055 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAD27775 | (Get FASTA) | NCBI Sequence Viewer |
AAH00241 | (Get FASTA) | NCBI Sequence Viewer | |
BAB54938 | (Get FASTA) | NCBI Sequence Viewer | |
BAD96715 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36582 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89261 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89262 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000245539 | ||
ENSP00000245539.6 | |||
ENSP00000462506.1 | |||
ENSP00000462677.1 | |||
ENSP00000463263.1 | |||
ENSP00000463683.1 | |||
ENSP00000463870.1 | |||
GenBank Protein | Q9Y2R9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_057055 ⟸ NM_015971 |
- UniProtKB: | Q9Y2R9 (UniProtKB/Swiss-Prot), B2R9N5 (UniProtKB/Swiss-Prot), Q53GD6 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000463870 ⟸ ENST00000581993 |
Ensembl Acc Id: | ENSP00000462677 ⟸ ENST00000583407 |
Ensembl Acc Id: | ENSP00000462506 ⟸ ENST00000584678 |
Ensembl Acc Id: | ENSP00000245539 ⟸ ENST00000245539 |
Ensembl Acc Id: | ENSP00000463263 ⟸ ENST00000579761 |
Ensembl Acc Id: | ENSP00000463683 ⟸ ENST00000579002 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y2R9-F1-model_v2 | AlphaFold | Q9Y2R9 | 1-242 | view protein structure |
RGD ID: | 6794347 | ||||||||
Promoter ID: | HG_KWN:27089 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_014001, NM_015971, NM_138619, NR_033345, UC002JNI.1, UC002JNJ.1, UC002JNL.2, UC002JNN.2 | ||||||||
Position: |
|
RGD ID: | 6853228 | ||||||||
Promoter ID: | EP74435 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_MRPS7 | ||||||||
Description: | Mitochondrial ribosomal protein S7. | ||||||||
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: |
|
RGD ID: | 7236281 | ||||||||
Promoter ID: | EPDNEW_H23886 | ||||||||
Type: | initiation region | ||||||||
Name: | MRPS7_4 | ||||||||
Description: | mitochondrial ribosomal protein S7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23887 EPDNEW_H23889 EPDNEW_H23890 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7236285 | ||||||||
Promoter ID: | EPDNEW_H23887 | ||||||||
Type: | initiation region | ||||||||
Name: | MRPS7_2 | ||||||||
Description: | mitochondrial ribosomal protein S7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23886 EPDNEW_H23889 EPDNEW_H23890 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7236287 | ||||||||
Promoter ID: | EPDNEW_H23889 | ||||||||
Type: | initiation region | ||||||||
Name: | MRPS7_3 | ||||||||
Description: | mitochondrial ribosomal protein S7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23886 EPDNEW_H23887 EPDNEW_H23890 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7236293 | ||||||||
Promoter ID: | EPDNEW_H23890 | ||||||||
Type: | initiation region | ||||||||
Name: | MRPS7_1 | ||||||||
Description: | mitochondrial ribosomal protein S7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23886 EPDNEW_H23887 EPDNEW_H23889 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:14499 | AgrOrtholog |
COSMIC | MRPS7 | COSMIC |
Ensembl Genes | ENSG00000125445 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000245539 | ENTREZGENE |
ENST00000245539.11 | UniProtKB/Swiss-Prot | |
ENST00000579002.5 | UniProtKB/TrEMBL | |
ENST00000579761.5 | UniProtKB/TrEMBL | |
ENST00000581993.5 | UniProtKB/TrEMBL | |
ENST00000583407.1 | UniProtKB/TrEMBL | |
ENST00000584678.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.455.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000125445 | GTEx |
HGNC ID | HGNC:14499 | ENTREZGENE |
Human Proteome Map | MRPS7 | Human Proteome Map |
InterPro | Ribosomal_S5/S7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ribosomal_S7_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ribosomal_S7_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:51081 | UniProtKB/Swiss-Prot |
NCBI Gene | 51081 | ENTREZGENE |
OMIM | 611974 | OMIM |
PANTHER | PTHR11205 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Ribosomal_S7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA31026 | PharmGKB |
PIRSF | RPS7p_RPS7a_RPS5e_RPS7o | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF47973 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B2R9N5 | ENTREZGENE |
J3KSI8_HUMAN | UniProtKB/TrEMBL | |
J3KSV8_HUMAN | UniProtKB/TrEMBL | |
J3QKW2_HUMAN | UniProtKB/TrEMBL | |
J3QLS3_HUMAN | UniProtKB/TrEMBL | |
J3QQS1_HUMAN | UniProtKB/TrEMBL | |
Q53GD6 | ENTREZGENE | |
Q96Q63_HUMAN | UniProtKB/TrEMBL | |
Q9Y2R9 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | B2R9N5 | UniProtKB/Swiss-Prot |
Q53GD6 | UniProtKB/Swiss-Prot |