Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cataract 47 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cataract 47 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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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:12477932 | PMID:12739169 | PMID:16385451 | PMID:18304496 | PMID:20181839 | PMID:21778275 | PMID:21873635 | PMID:23578822 | PMID:24667918 | PMID:26376857 | PMID:29088427 | PMID:30280653 |
PMID:31784090 | PMID:32249133 | PMID:32296183 | PMID:32781157 |
SLC16A12 (Homo sapiens - human) |
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Slc16a12 (Mus musculus - house mouse) |
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Slc16a12 (Rattus norvegicus - Norway rat) |
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Slc16a12 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC16A12 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC16A12 (Canis lupus familiaris - dog) |
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Slc16a12 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC16A12 (Sus scrofa - pig) |
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SLC16A12 (Chlorocebus sabaeus - green monkey) |
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Slc16a12 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC16A12
63 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter) | single nucleotide variant | Juvenile cataract-microcornea-renal glucosuria syndrome [RCV000000820] | Chr10:89438899 [GRCh38] Chr10:91198656 [GRCh37] Chr10:10q23.31 |
pathogenic |
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro) | single nucleotide variant | Congenital ocular coloboma [RCV000059347]|Juvenile cataract-microcornea-renal glucosuria syndrome [RCV002498350]|not provided [RCV002514304] | Chr10:89439160 [GRCh38] Chr10:91198917 [GRCh37] Chr10:10q23.31 |
likely benign|uncertain significance |
NM_213606.3(SLC16A12):c.896C>T (p.Pro299Leu) | single nucleotide variant | Malignant melanoma [RCV000062090] | Chr10:89438736 [GRCh38] Chr10:91198493 [GRCh37] Chr10:91188473 [NCBI36] Chr10:10q23.31 |
not provided |
NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val) | single nucleotide variant | not provided [RCV000171182] | Chr10:89441152 [GRCh38] Chr10:91200909 [GRCh37] Chr10:10q23.31 |
likely pathogenic |
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp) | single nucleotide variant | Developmental cataract [RCV000203355]|Juvenile cataract-microcornea-renal glucosuria syndrome [RCV002478716] | Chr10:89439022 [GRCh38] Chr10:91198779 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh38/hg38 10q23.31(chr10:89095288-89633544)x3 | copy number gain | See cases [RCV000141185] | Chr10:89095288..89633544 [GRCh38] Chr10:90855045..91393301 [GRCh37] Chr10:90845025..91383281 [NCBI36] Chr10:10q23.31 |
uncertain significance |
GRCh38/hg38 10q23.31(chr10:89535104-89540489)x3 | copy number gain | See cases [RCV000143311] | Chr10:89535104..89540489 [GRCh38] Chr10:91294861..91300246 [GRCh37] Chr10:91284841..91290226 [NCBI36] Chr10:10q23.31 |
likely benign|uncertain significance |
NM_213606.4(SLC16A12):c.145T>G (p.Trp49Gly) | single nucleotide variant | not provided [RCV000722535] | Chr10:89462434 [GRCh38] Chr10:91222191 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs) | microsatellite | Juvenile cataract-microcornea-renal glucosuria syndrome [RCV002485866]|not provided [RCV000729480] | Chr10:89438731..89438732 [GRCh38] Chr10:91198488..91198489 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10q23.1-23.31(chr10:86766571-92609514)x1 | copy number loss | See cases [RCV000447104] | Chr10:86766571..92609514 [GRCh37] Chr10:10q23.1-23.31 |
pathogenic |
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] | Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1 |
pathogenic|drug response |
GRCh37/hg19 10q23.2-23.31(chr10:88615516-92032083)x3 | copy number gain | See cases [RCV000448638] | Chr10:88615516..92032083 [GRCh37] Chr10:10q23.2-23.31 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1 | copy number loss | not provided [RCV000683284] | Chr10:83379241..93219169 [GRCh37] Chr10:10q23.1-23.32 |
pathogenic |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 | copy number gain | not provided [RCV000683289] | Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
pathogenic |
NM_213606.4(SLC16A12):c.662del (p.Gly221fs) | deletion | not provided [RCV000681757] | Chr10:89438970 [GRCh38] Chr10:91198727 [GRCh37] Chr10:10q23.31 |
likely pathogenic |
NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly) | single nucleotide variant | not provided [RCV000722784] | Chr10:89438610 [GRCh38] Chr10:91198367 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_213606.4(SLC16A12):c.49T>G (p.Trp17Gly) | single nucleotide variant | not provided [RCV000841206] | Chr10:89462530 [GRCh38] Chr10:91222287 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.305-9T>C | single nucleotide variant | Juvenile cataract-microcornea-renal glucosuria syndrome [RCV001198430] | Chr10:89441260 [GRCh38] Chr10:91201017 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.304+299C>T | single nucleotide variant | not provided [RCV001687195] | Chr10:89443457 [GRCh38] Chr10:91203214 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.1029-326A>C | single nucleotide variant | not provided [RCV001694752] | Chr10:89436645 [GRCh38] Chr10:91196402 [GRCh37] Chr10:10q23.31 |
benign |
NC_000010.11:g.(?_89338661)_(89612048_?)del | deletion | not provided [RCV001031694] | Chr10:91098418..91371805 [GRCh37] Chr10:10q23.31 |
pathogenic |
NM_213606.4(SLC16A12):c.*185C>A | single nucleotide variant | not provided [RCV001550767] | Chr10:89432879 [GRCh38] Chr10:91192636 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.305-261A>C | single nucleotide variant | not provided [RCV001673603] | Chr10:89441512 [GRCh38] Chr10:91201269 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.448+154G>A | single nucleotide variant | not provided [RCV001617538] | Chr10:89440954 [GRCh38] Chr10:91200711 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.*162T>A | single nucleotide variant | not provided [RCV001681117] | Chr10:89432902 [GRCh38] Chr10:91192659 [GRCh37] Chr10:10q23.31 |
benign |
GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1 | copy number loss | not provided [RCV001258457] | Chr10:88685387..92144296 [GRCh37] Chr10:10q23.2-23.31 |
pathogenic |
NM_213606.4(SLC16A12):c.1029-126A>G | single nucleotide variant | not provided [RCV001537274] | Chr10:89436445 [GRCh38] Chr10:91196202 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.609G>T (p.Trp203Cys) | single nucleotide variant | not provided [RCV001355947] | Chr10:89439023 [GRCh38] Chr10:91198780 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1289-239A>G | single nucleotide variant | not provided [RCV001655387] | Chr10:89433565 [GRCh38] Chr10:91193322 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.305-98A>C | single nucleotide variant | not provided [RCV001695721] | Chr10:89441349 [GRCh38] Chr10:91201106 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.201-276C>A | single nucleotide variant | not provided [RCV001641005] | Chr10:89444135 [GRCh38] Chr10:91203892 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.512G>A (p.Arg171Gln) | single nucleotide variant | not provided [RCV003107023] | Chr10:89439120 [GRCh38] Chr10:91198877 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.113G>A (p.Arg38Gln) | single nucleotide variant | not provided [RCV001763869] | Chr10:89462466 [GRCh38] Chr10:91222223 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr) | single nucleotide variant | Juvenile cataract-microcornea-renal glucosuria syndrome [RCV002496082]|not provided [RCV001764915] | Chr10:89462457 [GRCh38] Chr10:91222214 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.304+35C>A | single nucleotide variant | not provided [RCV001785998] | Chr10:89443721 [GRCh38] Chr10:91203478 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe) | single nucleotide variant | Juvenile cataract-microcornea-renal glucosuria syndrome [RCV002477959]|not provided [RCV001767574] | Chr10:89438874 [GRCh38] Chr10:91198631 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.407C>T (p.Thr136Met) | single nucleotide variant | not provided [RCV001752333] | Chr10:89441149 [GRCh38] Chr10:91200906 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.449-6C>T | single nucleotide variant | not provided [RCV002116150] | Chr10:89439189 [GRCh38] Chr10:91198946 [GRCh37] Chr10:10q23.31 |
benign |
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys) | single nucleotide variant | Juvenile cataract-microcornea-renal glucosuria syndrome [RCV002500339]|SLC16A12-related condition [RCV003933630]|not provided [RCV002158413] | Chr10:89436131 [GRCh38] Chr10:91195888 [GRCh37] Chr10:10q23.31 |
benign|likely benign |
NM_213606.4(SLC16A12):c.201-16G>A | single nucleotide variant | not provided [RCV002182200] | Chr10:89443875 [GRCh38] Chr10:91203632 [GRCh37] Chr10:10q23.31 |
likely benign |
NC_000010.10:g.(?_90974585)_(91222335_?)dup | duplication | Wolman disease [RCV003122214] | Chr10:90974585..91222335 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1 | copy number loss | See cases [RCV002287561] | Chr10:83533660..91913077 [GRCh37] Chr10:10q23.1-23.31 |
pathogenic |
GRCh37/hg19 10q23.31(chr10:90874051-91291188)x3 | copy number gain | not provided [RCV002474794] | Chr10:90874051..91291188 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1 | copy number loss | not provided [RCV002472429] | Chr10:82595472..93542416 [GRCh37] Chr10:10q23.1-23.32 |
pathogenic |
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 | copy number loss | not provided [RCV002472645] | Chr10:89823147..96056941 [GRCh37] Chr10:10q23.31-23.33 |
pathogenic |
NM_213606.4(SLC16A12):c.826A>G (p.Ser276Gly) | single nucleotide variant | Inborn genetic diseases [RCV002901989] | Chr10:89438806 [GRCh38] Chr10:91198563 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1291C>T (p.Arg431Trp) | single nucleotide variant | Inborn genetic diseases [RCV002946855] | Chr10:89433324 [GRCh38] Chr10:91193081 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.1481T>G (p.Val494Gly) | single nucleotide variant | not provided [RCV002755085] | Chr10:89433134 [GRCh38] Chr10:91192891 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1352T>C (p.Ile451Thr) | single nucleotide variant | Inborn genetic diseases [RCV002818528] | Chr10:89433263 [GRCh38] Chr10:91193020 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1129G>A (p.Val377Met) | single nucleotide variant | Inborn genetic diseases [RCV002991034] | Chr10:89436219 [GRCh38] Chr10:91195976 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.200+9del | deletion | not provided [RCV002947677] | Chr10:89462370 [GRCh38] Chr10:91222127 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.40A>G (p.Ile14Val) | single nucleotide variant | Inborn genetic diseases [RCV002849259] | Chr10:89462539 [GRCh38] Chr10:91222296 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.944A>C (p.His315Pro) | single nucleotide variant | Inborn genetic diseases [RCV002757402] | Chr10:89438688 [GRCh38] Chr10:91198445 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.260C>T (p.Thr87Met) | single nucleotide variant | Inborn genetic diseases [RCV002976947] | Chr10:89443800 [GRCh38] Chr10:91203557 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1028+10A>G | single nucleotide variant | not provided [RCV002591481] | Chr10:89438594 [GRCh38] Chr10:91198351 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.100G>A (p.Val34Ile) | single nucleotide variant | Inborn genetic diseases [RCV002743843] | Chr10:89462479 [GRCh38] Chr10:91222236 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.620T>C (p.Leu207Ser) | single nucleotide variant | Inborn genetic diseases [RCV002763017] | Chr10:89439012 [GRCh38] Chr10:91198769 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.893G>A (p.Ser298Asn) | single nucleotide variant | Inborn genetic diseases [RCV002789203] | Chr10:89438739 [GRCh38] Chr10:91198496 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.97A>G (p.Lys33Glu) | single nucleotide variant | SLC16A12-related condition [RCV003961307]|not provided [RCV002967068] | Chr10:89462482 [GRCh38] Chr10:91222239 [GRCh37] Chr10:10q23.31 |
benign|likely benign |
NM_213606.4(SLC16A12):c.1219T>C (p.Leu407=) | single nucleotide variant | not provided [RCV003045526] | Chr10:89436129 [GRCh38] Chr10:91195886 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.1486A>G (p.Arg496Gly) | single nucleotide variant | Inborn genetic diseases [RCV002720007] | Chr10:89433129 [GRCh38] Chr10:91192886 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.970A>C (p.Ile324Leu) | single nucleotide variant | Inborn genetic diseases [RCV002714193] | Chr10:89438662 [GRCh38] Chr10:91198419 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1398G>A (p.Met466Ile) | single nucleotide variant | Inborn genetic diseases [RCV002832388] | Chr10:89433217 [GRCh38] Chr10:91192974 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1318A>C (p.Thr440Pro) | single nucleotide variant | Inborn genetic diseases [RCV002724266] | Chr10:89433297 [GRCh38] Chr10:91193054 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1542C>A (p.Ser514Arg) | single nucleotide variant | not provided [RCV003069071] | Chr10:89433073 [GRCh38] Chr10:91192830 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.992T>C (p.Ile331Thr) | single nucleotide variant | Inborn genetic diseases [RCV003220381] | Chr10:89438640 [GRCh38] Chr10:91198397 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.746T>C (p.Ile249Thr) | single nucleotide variant | Inborn genetic diseases [RCV003191003] | Chr10:89438886 [GRCh38] Chr10:91198643 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.253G>A (p.Ala85Thr) | single nucleotide variant | Inborn genetic diseases [RCV003178235] | Chr10:89443807 [GRCh38] Chr10:91203564 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_213606.4(SLC16A12):c.751C>T (p.Arg251Trp) | single nucleotide variant | Inborn genetic diseases [RCV003352080] | Chr10:89438881 [GRCh38] Chr10:91198638 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 | copy number gain | not provided [RCV003484798] | Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
NM_213606.4(SLC16A12):c.201-9A>G | single nucleotide variant | not provided [RCV003546136] | Chr10:89443868 [GRCh38] Chr10:91203625 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.718C>T (p.His240Tyr) | single nucleotide variant | not provided [RCV003572150] | Chr10:89438914 [GRCh38] Chr10:91198671 [GRCh37] Chr10:10q23.31 |
uncertain significance |
NM_213606.4(SLC16A12):c.1441A>C (p.Lys481Gln) | single nucleotide variant | not provided [RCV003668406] | Chr10:89433174 [GRCh38] Chr10:91192931 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10q23.31(chr10:90948076-91395072)x3 | copy number gain | not specified [RCV003986858] | Chr10:90948076..91395072 [GRCh37] Chr10:10q23.31 |
uncertain significance |
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 | copy number loss | not specified [RCV003986861] | Chr10:90796994..100067505 [GRCh37] Chr10:10q23.31-24.2 |
pathogenic |
GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3 | copy number gain | not specified [RCV003986875] | Chr10:89950990..92959893 [GRCh37] Chr10:10q23.31-23.32 |
uncertain significance |
GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1 | copy number loss | not specified [RCV003986869] | Chr10:88121043..93641582 [GRCh37] Chr10:10q23.2-23.32 |
pathogenic |
NM_213606.4(SLC16A12):c.1230G>A (p.Ala410=) | single nucleotide variant | SLC16A12-related condition [RCV003982167] | Chr10:89436118 [GRCh38] Chr10:91195875 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.180C>A (p.Ile60=) | single nucleotide variant | SLC16A12-related condition [RCV003914036] | Chr10:89462399 [GRCh38] Chr10:91222156 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.837C>G (p.Leu279=) | single nucleotide variant | SLC16A12-related condition [RCV003969623] | Chr10:89438795 [GRCh38] Chr10:91198552 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.534C>T (p.Ile178=) | single nucleotide variant | SLC16A12-related condition [RCV003917254] | Chr10:89439098 [GRCh38] Chr10:91198855 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.862G>A (p.Val288Ile) | single nucleotide variant | not provided [RCV003884056] | Chr10:89438770 [GRCh38] Chr10:91198527 [GRCh37] Chr10:10q23.31 |
likely benign |
NM_213606.4(SLC16A12):c.252C>T (p.Tyr84=) | single nucleotide variant | SLC16A12-related condition [RCV003924274] | Chr10:89443808 [GRCh38] Chr10:91203565 [GRCh37] Chr10:10q23.31 |
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. |
D10S1143 |
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G17552 |
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D11S3652 |
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SHGC-154739 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 17 | 39 | 298 | 13 | 13 | 570 | 9 | 596 | 232 | 44 | 323 | 30 | 537 | 2 | |||
Low | 1785 | 1846 | 967 | 265 | 110 | 167 | 2944 | 2080 | 676 | 139 | 1082 | 1055 | 108 | 1061 | 1777 | ||
Below cutoff | 556 | 707 | 440 | 326 | 955 | 266 | 796 | 90 | 2376 | 39 | 285 | 201 | 66 | 1 | 113 | 474 | 3 |
RefSeq Transcripts | NG_021179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_213606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK124901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK127303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL353146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL355342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC086873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB068043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR936657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000371790 ⟹ ENSP00000360855 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000475682 ⟹ ENSP00000436965 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_213606 ⟹ NP_998771 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017016237 ⟹ XP_016871726 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017016238 ⟹ XP_016871727 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017016239 ⟹ XP_016871728 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047425221 ⟹ XP_047281177 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047425222 ⟹ XP_047281178 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047425223 ⟹ XP_047281179 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_998771 | (Get FASTA) | NCBI Sequence Viewer |
XP_016871726 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016871727 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016871728 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281177 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281178 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281179 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH86873 | (Get FASTA) | NCBI Sequence Viewer |
BAC85987 | (Get FASTA) | NCBI Sequence Viewer | |
BAC86925 | (Get FASTA) | NCBI Sequence Viewer | |
EAW50134 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000360855 | ||
ENSP00000360855.4 | |||
ENSP00000436965.1 | |||
GenBank Protein | Q6ZSM3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_998771 ⟸ NM_213606 |
- UniProtKB: | Q5T7J2 (UniProtKB/Swiss-Prot), Q5M9M9 (UniProtKB/Swiss-Prot), Q6ZV76 (UniProtKB/Swiss-Prot), Q6ZSM3 (UniProtKB/Swiss-Prot), E9PSF9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016871726 ⟸ XM_017016237 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZSM3 (UniProtKB/Swiss-Prot), Q5T7J2 (UniProtKB/Swiss-Prot), Q5M9M9 (UniProtKB/Swiss-Prot), Q6ZV76 (UniProtKB/Swiss-Prot), E9PSF9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016871728 ⟸ XM_017016239 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZSM3 (UniProtKB/Swiss-Prot), Q5T7J2 (UniProtKB/Swiss-Prot), Q5M9M9 (UniProtKB/Swiss-Prot), Q6ZV76 (UniProtKB/Swiss-Prot), E9PSF9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016871727 ⟸ XM_017016238 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZSM3 (UniProtKB/Swiss-Prot), Q5T7J2 (UniProtKB/Swiss-Prot), Q5M9M9 (UniProtKB/Swiss-Prot), Q6ZV76 (UniProtKB/Swiss-Prot), E9PSF9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000360855 ⟸ ENST00000371790 |
RefSeq Acc Id: | ENSP00000436965 ⟸ ENST00000475682 |
RefSeq Acc Id: | XP_047281179 ⟸ XM_047425223 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZSM3 (UniProtKB/Swiss-Prot), Q5T7J2 (UniProtKB/Swiss-Prot), Q5M9M9 (UniProtKB/Swiss-Prot), E9PSF9 (UniProtKB/Swiss-Prot), Q6ZV76 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047281177 ⟸ XM_047425221 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZSM3 (UniProtKB/Swiss-Prot), Q5T7J2 (UniProtKB/Swiss-Prot), Q5M9M9 (UniProtKB/Swiss-Prot), E9PSF9 (UniProtKB/Swiss-Prot), Q6ZV76 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047281178 ⟸ XM_047425222 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZSM3 (UniProtKB/Swiss-Prot), Q5T7J2 (UniProtKB/Swiss-Prot), Q5M9M9 (UniProtKB/Swiss-Prot), E9PSF9 (UniProtKB/Swiss-Prot), Q6ZV76 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6ZSM3-F1-model_v2 | AlphaFold | Q6ZSM3 | 1-516 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:23094 | AgrOrtholog |
COSMIC | SLC16A12 | COSMIC |
Ensembl Genes | ENSG00000152779 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000371790 | ENTREZGENE |
ENST00000371790.5 | UniProtKB/Swiss-Prot | |
ENST00000475682.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1250.20 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000152779 | GTEx |
HGNC ID | HGNC:23094 | ENTREZGENE |
Human Proteome Map | SLC16A12 | Human Proteome Map |
InterPro | MFS | UniProtKB/Swiss-Prot |
MFS_dom | UniProtKB/Swiss-Prot | |
MFS_trans_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:387700 | UniProtKB/Swiss-Prot |
NCBI Gene | 387700 | ENTREZGENE |
OMIM | 611910 | OMIM |
PANTHER | MONOCARBOXYLATE TRANSPORTER | UniProtKB/Swiss-Prot |
MONOCARBOXYLATE TRANSPORTER 12 | UniProtKB/Swiss-Prot | |
Pfam | MFS_1 | UniProtKB/Swiss-Prot |
PharmGKB | PA134969386 | PharmGKB |
PROSITE | MFS | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF103473 | UniProtKB/Swiss-Prot |
UniProt | E9PPP4_HUMAN | UniProtKB/TrEMBL |
E9PSF9 | ENTREZGENE | |
MOT12_HUMAN | UniProtKB/Swiss-Prot | |
Q5M9M9 | ENTREZGENE | |
Q5T7J2 | ENTREZGENE | |
Q6ZSM3 | ENTREZGENE | |
Q6ZV76 | ENTREZGENE | |
UniProt Secondary | E9PSF9 | UniProtKB/Swiss-Prot |
Q5M9M9 | UniProtKB/Swiss-Prot | |
Q5T7J2 | UniProtKB/Swiss-Prot | |
Q6ZV76 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-01-05 | SLC16A12 | solute carrier family 16 member 12 | solute carrier family 16, member 12 | Symbol and/or name change | 5135510 | APPROVED | |
2013-07-23 | SLC16A12 | solute carrier family 16, member 12 | solute carrier family 16, member 12 (monocarboxylic acid transporter 12) | Symbol and/or name change | 5135510 | APPROVED |