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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MCIDAS | Human | primary ciliary dyskinesia 42 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MCIDAS | Human | primary ciliary dyskinesia 42 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:20301301 | PMID:21543332 | PMID:21873635 | PMID:22231168 | PMID:24064211 | PMID:25048963 | PMID:27705803 | PMID:28514442 | PMID:32296183 | PMID:32362381 | PMID:33961781 | PMID:34569065 |
MCIDAS (Homo sapiens - human) |
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Mcidas (Mus musculus - house mouse) |
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Mcidas (Rattus norvegicus - Norway rat) |
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Mcidas (Chinchilla lanigera - long-tailed chinchilla) |
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MCIDAS (Pan paniscus - bonobo/pygmy chimpanzee) |
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MCIDAS (Canis lupus familiaris - dog) |
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Mcidas (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MCIDAS (Sus scrofa - pig) |
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MCIDAS (Chlorocebus sabaeus - green monkey) |
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Mcidas (Heterocephalus glaber - naked mole-rat) |
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Variants in MCIDAS
172 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001190787.3(MCIDAS):c.14G>A (p.Gly5Glu) | single nucleotide variant | Primary ciliary dyskinesia [RCV001907806] | Chr5:55227125 [GRCh38] Chr5:54522953 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.218-13_218-6dup | duplication | Ciliary dyskinesia, primary, 42 [RCV002490935]|MCIDAS-related disorder [RCV003935393]|Primary ciliary dyskinesia [RCV000549202] | Chr5:55226672..55226673 [GRCh38] Chr5:54522500..54522501 [GRCh37] Chr5:5q11.2 |
likely benign |
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 | copy number loss | See cases [RCV000050797] | Chr5:50288355..63149770 [GRCh38] Chr5:49584189..62445597 [GRCh37] Chr5:49619946..62481353 [NCBI36] Chr5:5q11.1-12.1 |
pathogenic |
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] | Chr5:50288355..56717370 [GRCh38] Chr5:49584189..56013197 [GRCh37] Chr5:49619946..56048954 [NCBI36] Chr5:5q11.1-11.2 |
pathogenic |
GRCh38/hg38 5q11.2(chr5:53332485-57152396)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|See cases [RCV000053283] | Chr5:53332485..57152396 [GRCh38] Chr5:52628315..56448223 [GRCh37] Chr5:52664072..56483980 [NCBI36] Chr5:5q11.2 |
uncertain significance |
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 | copy number loss | See cases [RCV000053451] | Chr5:50462100..55862985 [GRCh38] Chr5:49757934..55158813 [GRCh37] Chr5:49793691..55194570 [NCBI36] Chr5:5q11.1-11.2 |
pathogenic |
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 | copy number gain | See cases [RCV000137302] | Chr5:35201559..61903141 [GRCh38] Chr5:35201661..61198968 [GRCh37] Chr5:35237418..61234725 [NCBI36] Chr5:5p13.2-q12.1 |
pathogenic |
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 | copy number gain | See cases [RCV000138021] | Chr5:45566861..56506493 [GRCh38] Chr5:45566963..55802320 [GRCh37] Chr5:45602720..55838077 [NCBI36] Chr5:5p12-q11.2 |
uncertain significance |
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 | copy number gain | See cases [RCV000138780] | Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3 |
pathogenic |
GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3 | copy number gain | See cases [RCV000139251] | Chr5:55028257..55939697 [GRCh38] Chr5:54324085..55235525 [GRCh37] Chr5:54359842..55271282 [NCBI36] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV000983977] | Chr5:55222341 [GRCh38] Chr5:54518169 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV000983979] | Chr5:55220427 [GRCh38] Chr5:54516255 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV000983978]|Primary ciliary dyskinesia [RCV001852538] | Chr5:55220382 [GRCh38] Chr5:54516210 [GRCh37] Chr5:5q11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys) | single nucleotide variant | MCIDAS-related disorder [RCV003929950]|Primary ciliary dyskinesia [RCV000229563]|not provided [RCV004705058] | Chr5:55220668 [GRCh38] Chr5:54516496 [GRCh37] Chr5:5q11.2 |
benign|likely benign|uncertain significance |
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp) | single nucleotide variant | Primary ciliary dyskinesia [RCV000231891]|not specified [RCV000238760] | Chr5:55220785 [GRCh38] Chr5:54516613 [GRCh37] Chr5:5q11.2 |
likely benign|uncertain significance |
NM_001190787.3(MCIDAS):c.120+3G>A | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV002272187]|Primary ciliary dyskinesia [RCV000232005]|not provided [RCV003430780] | Chr5:55227016 [GRCh38] Chr5:54522844 [GRCh37] Chr5:5q11.2 |
benign|likely benign|uncertain significance |
NM_001190787.3(MCIDAS):c.638A>G (p.Glu213Gly) | single nucleotide variant | Primary ciliary dyskinesia [RCV000229108] | Chr5:55221095 [GRCh38] Chr5:54516923 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.234C>T (p.Asp78=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000233658]|not provided [RCV004706674] | Chr5:55226651 [GRCh38] Chr5:54522479 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000228100]|not provided [RCV004705057] | Chr5:55220462 [GRCh38] Chr5:54516290 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV003114396]|Inborn genetic diseases [RCV002516314]|Primary ciliary dyskinesia [RCV000226791] | Chr5:55220703 [GRCh38] Chr5:54516531 [GRCh37] Chr5:5q11.2 |
benign|likely benign|uncertain significance |
NM_001190787.3(MCIDAS):c.774C>T (p.Leu258=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002060288]|not provided [RCV004716517] | Chr5:55220750 [GRCh38] Chr5:54516578 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.643G>T (p.Ala215Ser) | single nucleotide variant | Primary ciliary dyskinesia [RCV000629402] | Chr5:55221090 [GRCh38] Chr5:54516918 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.489G>A (p.Arg163=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000629589] | Chr5:55222293 [GRCh38] Chr5:54518121 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV003758807]|Primary ciliary dyskinesia [RCV000534409] | Chr5:55226890 [GRCh38] Chr5:54522718 [GRCh37] Chr5:5q11.2 |
benign|likely benign|uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | copy number gain | See cases [RCV000510723] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q11.2(chr5:53784524-54985838) | copy number loss | Abnormal esophagus morphology [RCV000416715] | Chr5:53784524..54985838 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1032G>A (p.Glu344=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001402299] | Chr5:55220492 [GRCh38] Chr5:54516320 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.144C>T (p.Phe48=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000475940] | Chr5:55226908 [GRCh38] Chr5:54522736 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV001775795]|Primary ciliary dyskinesia [RCV001516801]|not provided [RCV001613275]|not specified [RCV000455547] | Chr5:55220693 [GRCh38] Chr5:54516521 [GRCh37] Chr5:5q11.2 |
benign |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 | copy number loss | See cases [RCV000511978] | Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 | copy number gain | See cases [RCV000512039] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_001190787.3(MCIDAS):c.828T>C (p.Asp276=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000541969]|not provided [RCV004716518] | Chr5:55220696 [GRCh38] Chr5:54516524 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.401C>T (p.Ser134Leu) | single nucleotide variant | Inborn genetic diseases [RCV003279416] | Chr5:55222381 [GRCh38] Chr5:54518209 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.303C>G (p.Ala101=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000537622] | Chr5:55226582 [GRCh38] Chr5:54522410 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1050C>G (p.Thr350=) | single nucleotide variant | MCIDAS-related disorder [RCV003945580]|Primary ciliary dyskinesia [RCV000629621] | Chr5:55220474 [GRCh38] Chr5:54516302 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.665T>A (p.Val222Glu) | single nucleotide variant | Inborn genetic diseases [RCV003282373] | Chr5:55221068 [GRCh38] Chr5:54516896 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.277G>C (p.Ala93Pro) | single nucleotide variant | Primary ciliary dyskinesia [RCV000559309]|not provided [RCV004691837] | Chr5:55226608 [GRCh38] Chr5:54522436 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.707C>G (p.Ser236Trp) | single nucleotide variant | Inborn genetic diseases [RCV003267856] | Chr5:55221026 [GRCh38] Chr5:54516854 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.474G>A (p.Pro158=) | single nucleotide variant | MCIDAS-related disorder [RCV004755949]|Primary ciliary dyskinesia [RCV000548992] | Chr5:55222308 [GRCh38] Chr5:54518136 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.123C>T (p.Phe41=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000629632] | Chr5:55226929 [GRCh38] Chr5:54522757 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.93C>G (p.Leu31=) | single nucleotide variant | MCIDAS-related disorder [RCV003935747]|Primary ciliary dyskinesia [RCV000629646] | Chr5:55227046 [GRCh38] Chr5:54522874 [GRCh37] Chr5:5q11.2 |
benign|likely benign |
NM_001190787.3(MCIDAS):c.135del (p.Lys46fs) | deletion | Primary ciliary dyskinesia [RCV000685117] | Chr5:55226917 [GRCh38] Chr5:54522745 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.1054A>C (p.Ile352Leu) | single nucleotide variant | Primary ciliary dyskinesia [RCV000697566] | Chr5:55220470 [GRCh38] Chr5:54516298 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.1076G>T (p.Arg359Leu) | single nucleotide variant | Primary ciliary dyskinesia [RCV000701170] | Chr5:55220448 [GRCh38] Chr5:54516276 [GRCh37] Chr5:5q11.2 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 | copy number gain | not provided [RCV000744323] | Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 | copy number gain | not provided [RCV000744317] | Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) | single nucleotide variant | Primary ciliary dyskinesia [RCV001044059] | Chr5:55220520 [GRCh38] Chr5:54516348 [GRCh37] Chr5:5q11.2 |
pathogenic|likely pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787436] | Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_001190787.3(MCIDAS):c.750G>A (p.Gly250=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001419263]|not provided [RCV004707428] | Chr5:55220774 [GRCh38] Chr5:54516602 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.228C>T (p.Thr76=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001406820] | Chr5:55226657 [GRCh38] Chr5:54522485 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.219C>G (p.Ala73=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000867064] | Chr5:55226666 [GRCh38] Chr5:54522494 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.57C>T (p.Pro19=) | single nucleotide variant | Primary ciliary dyskinesia [RCV000867116] | Chr5:55227082 [GRCh38] Chr5:54522910 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.78G>A (p.Pro26=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001047589] | Chr5:55227061 [GRCh38] Chr5:54522889 [GRCh37] Chr5:5q11.2 |
likely benign|uncertain significance |
NM_001190787.3(MCIDAS):c.121-7C>T | single nucleotide variant | Primary ciliary dyskinesia [RCV002064493] | Chr5:55226938 [GRCh38] Chr5:54522766 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.24G>A (p.Ala8=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003537323] | Chr5:55227115 [GRCh38] Chr5:54522943 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.301G>T (p.Ala101Ser) | single nucleotide variant | Primary ciliary dyskinesia [RCV000801213] | Chr5:55226584 [GRCh38] Chr5:54522412 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.475C>G (p.Pro159Ala) | single nucleotide variant | Primary ciliary dyskinesia [RCV000818511] | Chr5:55222307 [GRCh38] Chr5:54518135 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NC_000005.9:g.53180658_54552379dup | duplication | Neurodevelopmental disorder [RCV000787438] | Chr5:53180658..54552379 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.364G>C (p.Val122Leu) | single nucleotide variant | Inborn genetic diseases [RCV002535940]|Primary ciliary dyskinesia [RCV000822072] | Chr5:55222969 [GRCh38] Chr5:54518797 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.893G>A (p.Arg298His) | single nucleotide variant | Primary ciliary dyskinesia [RCV001426102] | Chr5:55220631 [GRCh38] Chr5:54516459 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter) | single nucleotide variant | Primary ciliary dyskinesia [RCV001202944] | Chr5:55221108 [GRCh38] Chr5:54516936 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.8C>A (p.Ala3Glu) | single nucleotide variant | Primary ciliary dyskinesia [RCV001229921] | Chr5:55227131 [GRCh38] Chr5:54522959 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NC_000005.9:g.(?_52285299)_(56189507_?)del | deletion | not provided [RCV003107599] | Chr5:52285299..56189507 [GRCh37] Chr5:5q11.2 |
pathogenic |
NC_000005.10:g.55227577C>G | single nucleotide variant | not provided [RCV001716331] | Chr5:55227577 [GRCh38] Chr5:54523405 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.382+119C>T | single nucleotide variant | not provided [RCV001677097] | Chr5:55222832 [GRCh38] Chr5:54518660 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.717+2T>G | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV000983980] | Chr5:55221014 [GRCh38] Chr5:54516842 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.666G>A (p.Val222=) | single nucleotide variant | not provided [RCV000917875] | Chr5:55221067 [GRCh38] Chr5:54516895 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1003T>C (p.Leu335=) | single nucleotide variant | not provided [RCV000888981] | Chr5:55220521 [GRCh38] Chr5:54516349 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV003132271]|Inborn genetic diseases [RCV002561697]|Primary ciliary dyskinesia [RCV001208741] | Chr5:55220484 [GRCh38] Chr5:54516312 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.275A>C (p.Asp92Ala) | single nucleotide variant | Primary ciliary dyskinesia [RCV001241097] | Chr5:55226610 [GRCh38] Chr5:54522438 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr) | single nucleotide variant | Primary ciliary dyskinesia 3 [RCV003234815] | Chr5:55222336 [GRCh38] Chr5:54518164 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.606+169G>C | single nucleotide variant | not provided [RCV001695970] | Chr5:55222007 [GRCh38] Chr5:54517835 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.607-157dup | duplication | not provided [RCV001655504] | Chr5:55221274..55221275 [GRCh38] Chr5:54517102..54517103 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.*136T>A | single nucleotide variant | not provided [RCV001595866] | Chr5:55220230 [GRCh38] Chr5:54516058 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.1154G>T (p.Ser385Ile) | single nucleotide variant | Primary ciliary dyskinesia [RCV001071918] | Chr5:55220370 [GRCh38] Chr5:54516198 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.38C>A (p.Ala13Asp) | single nucleotide variant | Primary ciliary dyskinesia [RCV001069547] | Chr5:55227101 [GRCh38] Chr5:54522929 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.382+92A>G | single nucleotide variant | not provided [RCV001648308] | Chr5:55222859 [GRCh38] Chr5:54518687 [GRCh37] Chr5:5q11.2 |
benign |
NC_000005.10:g.55227592A>G | single nucleotide variant | not provided [RCV001670689] | Chr5:55227592 [GRCh38] Chr5:54523420 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val) | single nucleotide variant | Primary ciliary dyskinesia [RCV001234651]|not provided [RCV004768954] | Chr5:55220439 [GRCh38] Chr5:54516267 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.165C>G (p.Ser55Arg) | single nucleotide variant | Primary ciliary dyskinesia [RCV001297938] | Chr5:55226887 [GRCh38] Chr5:54522715 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.59A>G (p.Asn20Ser) | single nucleotide variant | Primary ciliary dyskinesia [RCV001350611] | Chr5:55227080 [GRCh38] Chr5:54522908 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.8C>T (p.Ala3Val) | single nucleotide variant | Primary ciliary dyskinesia [RCV001308429] | Chr5:55227131 [GRCh38] Chr5:54522959 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.512G>C (p.Arg171Pro) | single nucleotide variant | Primary ciliary dyskinesia [RCV001306591] | Chr5:55222270 [GRCh38] Chr5:54518098 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.682G>T (p.Ala228Ser) | single nucleotide variant | Primary ciliary dyskinesia [RCV001364041] | Chr5:55221051 [GRCh38] Chr5:54516879 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.1001C>G (p.Ala334Gly) | single nucleotide variant | Primary ciliary dyskinesia [RCV001338355] | Chr5:55220523 [GRCh38] Chr5:54516351 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr) | single nucleotide variant | Inborn genetic diseases [RCV002543141]|Primary ciliary dyskinesia [RCV001305795] | Chr5:55220560 [GRCh38] Chr5:54516388 [GRCh37] Chr5:5q11.2 |
likely benign|uncertain significance |
NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001462482] | Chr5:55222206 [GRCh38] Chr5:54518034 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.*8T>C | single nucleotide variant | not provided [RCV001708971] | Chr5:55220358 [GRCh38] Chr5:54516186 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.717+92G>C | single nucleotide variant | not provided [RCV001684972] | Chr5:55220924 [GRCh38] Chr5:54516752 [GRCh37] Chr5:5q11.2 |
benign |
NM_001190787.3(MCIDAS):c.930G>A (p.Ala310=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001471602] | Chr5:55220594 [GRCh38] Chr5:54516422 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.210G>A (p.Ala70=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001467029] | Chr5:55226842 [GRCh38] Chr5:54522670 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.577T>C (p.Leu193=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001438522] | Chr5:55222205 [GRCh38] Chr5:54518033 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.218-15G>C | single nucleotide variant | Primary ciliary dyskinesia [RCV003108841] | Chr5:55226682 [GRCh38] Chr5:54522510 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.326C>T (p.Thr109Met) | single nucleotide variant | Primary ciliary dyskinesia [RCV001984391] | Chr5:55223007 [GRCh38] Chr5:54518835 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.84G>T (p.Arg28=) | single nucleotide variant | Primary ciliary dyskinesia [RCV001945272] | Chr5:55227055 [GRCh38] Chr5:54522883 [GRCh37] Chr5:5q11.2 |
likely benign|uncertain significance |
NM_001190787.3(MCIDAS):c.139T>C (p.Phe47Leu) | single nucleotide variant | Primary ciliary dyskinesia [RCV001927680] | Chr5:55226913 [GRCh38] Chr5:54522741 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.155C>T (p.Thr52Ile) | single nucleotide variant | Inborn genetic diseases [RCV004641718]|Primary ciliary dyskinesia [RCV001937448] | Chr5:55226897 [GRCh38] Chr5:54522725 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His) | single nucleotide variant | Primary ciliary dyskinesia [RCV002011007] | Chr5:55220373 [GRCh38] Chr5:54516201 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.235del (p.Leu79fs) | deletion | Primary ciliary dyskinesia [RCV001922645] | Chr5:55226650 [GRCh38] Chr5:54522478 [GRCh37] Chr5:5q11.2 |
pathogenic |
NC_000005.9:g.(?_54518759)_(54518871_?)del | deletion | Primary ciliary dyskinesia [RCV001980216] | Chr5:54518759..54518871 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.422A>G (p.Asp141Gly) | single nucleotide variant | Primary ciliary dyskinesia [RCV001951953] | Chr5:55222360 [GRCh38] Chr5:54518188 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.604C>G (p.Gln202Glu) | single nucleotide variant | Primary ciliary dyskinesia [RCV002027154] | Chr5:55222178 [GRCh38] Chr5:54518006 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.86C>A (p.Ala29Glu) | single nucleotide variant | Primary ciliary dyskinesia [RCV001879273] | Chr5:55227053 [GRCh38] Chr5:54522881 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.606+20G>A | single nucleotide variant | Primary ciliary dyskinesia [RCV002087816] | Chr5:55222156 [GRCh38] Chr5:54517984 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.218-16C>G | single nucleotide variant | Primary ciliary dyskinesia [RCV002108896] | Chr5:55226683 [GRCh38] Chr5:54522511 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.102G>C (p.Pro34=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002167767] | Chr5:55227037 [GRCh38] Chr5:54522865 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.21C>G (p.Gly7=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002191098] | Chr5:55227118 [GRCh38] Chr5:54522946 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1047C>T (p.Ser349=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002151425] | Chr5:55220477 [GRCh38] Chr5:54516305 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.121-19C>A | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV003120811]|Primary ciliary dyskinesia [RCV002080784] | Chr5:55226950 [GRCh38] Chr5:54522778 [GRCh37] Chr5:5q11.2 |
benign|uncertain significance |
NM_001190787.3(MCIDAS):c.606+17G>A | single nucleotide variant | Primary ciliary dyskinesia [RCV002197380]|not provided [RCV004706292] | Chr5:55222159 [GRCh38] Chr5:54517987 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.717+16G>A | single nucleotide variant | Primary ciliary dyskinesia [RCV002092648] | Chr5:55221000 [GRCh38] Chr5:54516828 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.618A>G (p.Thr206=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002113990] | Chr5:55221115 [GRCh38] Chr5:54516943 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002220061] | Chr5:55222332 [GRCh38] Chr5:54518160 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.739C>A (p.Arg247=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002135509] | Chr5:55220785 [GRCh38] Chr5:54516613 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.882C>T (p.Ala294=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002122026] | Chr5:55220642 [GRCh38] Chr5:54516470 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.72A>T (p.Ala24=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002083310] | Chr5:55227067 [GRCh38] Chr5:54522895 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.717+13C>T | single nucleotide variant | Primary ciliary dyskinesia [RCV002123120] | Chr5:55221003 [GRCh38] Chr5:54516831 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.156A>G (p.Thr52=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003117307] | Chr5:55226896 [GRCh38] Chr5:54522724 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.120+2dup | duplication | Ciliary dyskinesia, primary, 42 [RCV003120334] | Chr5:55227016..55227017 [GRCh38] Chr5:54522844..54522845 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.849C>G (p.Ile283Met) | single nucleotide variant | Inborn genetic diseases [RCV003295692] | Chr5:55220675 [GRCh38] Chr5:54516503 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.382+18G>T | single nucleotide variant | Primary ciliary dyskinesia [RCV003035013] | Chr5:55222933 [GRCh38] Chr5:54518761 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.740G>A (p.Arg247Gln) | single nucleotide variant | Inborn genetic diseases [RCV002732480] | Chr5:55220784 [GRCh38] Chr5:54516612 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.306G>T (p.Ser102=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003033176] | Chr5:55226579 [GRCh38] Chr5:54522407 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.690A>C (p.Arg230=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002740077] | Chr5:55221043 [GRCh38] Chr5:54516871 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.662_678del (p.Asn221fs) | deletion | Primary ciliary dyskinesia [RCV003002805] | Chr5:55221055..55221071 [GRCh38] Chr5:54516883..54516899 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002638195] | Chr5:55222224 [GRCh38] Chr5:54518052 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.187C>A (p.Pro63Thr) | single nucleotide variant | Inborn genetic diseases [RCV002868527] | Chr5:55226865 [GRCh38] Chr5:54522693 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.607-13T>G | single nucleotide variant | Primary ciliary dyskinesia [RCV002979026] | Chr5:55221139 [GRCh38] Chr5:54516967 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.268G>A (p.Gly90Arg) | single nucleotide variant | Primary ciliary dyskinesia [RCV003079972] | Chr5:55226617 [GRCh38] Chr5:54522445 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003054146] | Chr5:55221124 [GRCh38] Chr5:54516952 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.56C>G (p.Pro19Arg) | single nucleotide variant | Inborn genetic diseases [RCV002910276] | Chr5:55227083 [GRCh38] Chr5:54522911 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.300C>T (p.Ala100=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002885647] | Chr5:55226585 [GRCh38] Chr5:54522413 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.550G>A (p.Glu184Lys) | single nucleotide variant | Primary ciliary dyskinesia [RCV002705782] | Chr5:55222232 [GRCh38] Chr5:54518060 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.102G>A (p.Pro34=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002886308] | Chr5:55227037 [GRCh38] Chr5:54522865 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.226A>G (p.Thr76Ala) | single nucleotide variant | Primary ciliary dyskinesia [RCV003079578] | Chr5:55226659 [GRCh38] Chr5:54522487 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.845C>G (p.Ala282Gly) | single nucleotide variant | Inborn genetic diseases [RCV002910469] | Chr5:55220679 [GRCh38] Chr5:54516507 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.120+8G>C | single nucleotide variant | Primary ciliary dyskinesia [RCV002636994] | Chr5:55227011 [GRCh38] Chr5:54522839 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.167C>T (p.Pro56Leu) | single nucleotide variant | Primary ciliary dyskinesia [RCV003058711] | Chr5:55226885 [GRCh38] Chr5:54522713 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.1091C>G (p.Pro364Arg) | single nucleotide variant | Primary ciliary dyskinesia [RCV002959125] | Chr5:55220433 [GRCh38] Chr5:54516261 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.109C>G (p.Pro37Ala) | single nucleotide variant | Primary ciliary dyskinesia [RCV002895099] | Chr5:55227030 [GRCh38] Chr5:54522858 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.150A>G (p.Gly50=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002852552] | Chr5:55226902 [GRCh38] Chr5:54522730 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.606+16T>G | single nucleotide variant | Primary ciliary dyskinesia [RCV002800945] | Chr5:55222160 [GRCh38] Chr5:54517988 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.607-1G>T | single nucleotide variant | Primary ciliary dyskinesia [RCV004798962] | Chr5:55221127 [GRCh38] Chr5:54516955 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.182A>G (p.Glu61Gly) | single nucleotide variant | Inborn genetic diseases [RCV002699318] | Chr5:55226870 [GRCh38] Chr5:54522698 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.383-14C>T | single nucleotide variant | Primary ciliary dyskinesia [RCV002851218] | Chr5:55222413 [GRCh38] Chr5:54518241 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.324A>G (p.Gln108=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003058367] | Chr5:55223009 [GRCh38] Chr5:54518837 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1117A>G (p.Thr373Ala) | single nucleotide variant | Inborn genetic diseases [RCV002931215] | Chr5:55220407 [GRCh38] Chr5:54516235 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.567C>A (p.Asn189Lys) | single nucleotide variant | Inborn genetic diseases [RCV002644683] | Chr5:55222215 [GRCh38] Chr5:54518043 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.365T>C (p.Val122Ala) | single nucleotide variant | Inborn genetic diseases [RCV002743154] | Chr5:55222968 [GRCh38] Chr5:54518796 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.42C>T (p.Phe14=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002899808] | Chr5:55227097 [GRCh38] Chr5:54522925 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.309+7C>G | single nucleotide variant | Primary ciliary dyskinesia [RCV002746587] | Chr5:55226569 [GRCh38] Chr5:54522397 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.382+7G>A | single nucleotide variant | Primary ciliary dyskinesia [RCV002633026] | Chr5:55222944 [GRCh38] Chr5:54518772 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003009204] | Chr5:55222329 [GRCh38] Chr5:54518157 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.149del (p.Gly50fs) | deletion | Primary ciliary dyskinesia [RCV002791906] | Chr5:55226903 [GRCh38] Chr5:54522731 [GRCh37] Chr5:5q11.2 |
pathogenic |
NM_001190787.3(MCIDAS):c.345G>A (p.Leu115=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002630198] | Chr5:55222988 [GRCh38] Chr5:54518816 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.68T>C (p.Leu23Pro) | single nucleotide variant | Primary ciliary dyskinesia [RCV002988726] | Chr5:55227071 [GRCh38] Chr5:54522899 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.295C>T (p.Leu99=) | single nucleotide variant | Primary ciliary dyskinesia [RCV002716999] | Chr5:55226590 [GRCh38] Chr5:54522418 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.255C>T (p.Cys85=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003068150] | Chr5:55226630 [GRCh38] Chr5:54522458 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.297G>A (p.Leu99=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003068069] | Chr5:55226588 [GRCh38] Chr5:54522416 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.950G>A (p.Gly317Glu) | single nucleotide variant | Primary ciliary dyskinesia [RCV002635420] | Chr5:55220574 [GRCh38] Chr5:54516402 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.521A>G (p.Asp174Gly) | single nucleotide variant | Primary ciliary dyskinesia [RCV002635718] | Chr5:55222261 [GRCh38] Chr5:54518089 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.1137G>C (p.Lys379Asn) | single nucleotide variant | Inborn genetic diseases [RCV003199020] | Chr5:55220387 [GRCh38] Chr5:54516215 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.793A>C (p.Ser265Arg) | single nucleotide variant | Inborn genetic diseases [RCV003209790] | Chr5:55220731 [GRCh38] Chr5:54516559 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.382G>A (p.Asp128Asn) | single nucleotide variant | Ciliary dyskinesia, primary, 42 [RCV003338068] | Chr5:55222951 [GRCh38] Chr5:54518779 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.941C>A (p.Thr314Asn) | single nucleotide variant | Inborn genetic diseases [RCV003361524] | Chr5:55220583 [GRCh38] Chr5:54516411 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.229A>G (p.Ile77Val) | single nucleotide variant | MCIDAS-related disorder [RCV003410861] | Chr5:55226656 [GRCh38] Chr5:54522484 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.309+8C>T | single nucleotide variant | Primary ciliary dyskinesia [RCV003653961] | Chr5:55226568 [GRCh38] Chr5:54522396 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.217+3G>A | single nucleotide variant | Primary ciliary dyskinesia [RCV003650128] | Chr5:55226832 [GRCh38] Chr5:54522660 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.501del (p.Pro168fs) | deletion | Ciliary dyskinesia, primary, 42 [RCV003493236] | Chr5:55222281 [GRCh38] Chr5:54518109 [GRCh37] Chr5:5q11.2 |
likely pathogenic |
NM_001190787.3(MCIDAS):c.218-7C>A | single nucleotide variant | Primary ciliary dyskinesia [RCV003880306] | Chr5:55226674 [GRCh38] Chr5:54522502 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.759C>T (p.Ala253=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003652392] | Chr5:55220765 [GRCh38] Chr5:54516593 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.718-5C>T | single nucleotide variant | Primary ciliary dyskinesia [RCV003652598] | Chr5:55220811 [GRCh38] Chr5:54516639 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.717+20G>A | single nucleotide variant | Primary ciliary dyskinesia [RCV003652882] | Chr5:55220996 [GRCh38] Chr5:54516824 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.218-18C>T | single nucleotide variant | Primary ciliary dyskinesia [RCV003652627] | Chr5:55226685 [GRCh38] Chr5:54522513 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.235C>T (p.Leu79=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003652459] | Chr5:55226650 [GRCh38] Chr5:54522478 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.268G>T (p.Gly90Trp) | single nucleotide variant | Primary ciliary dyskinesia [RCV003653094] | Chr5:55226617 [GRCh38] Chr5:54522445 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.277G>A (p.Ala93Thr) | single nucleotide variant | Primary ciliary dyskinesia [RCV003828628] | Chr5:55226608 [GRCh38] Chr5:54522436 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.121-6G>T | single nucleotide variant | Primary ciliary dyskinesia [RCV003647339] | Chr5:55226937 [GRCh38] Chr5:54522765 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.336C>T (p.Asp112=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003647614] | Chr5:55222997 [GRCh38] Chr5:54518825 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.174G>C (p.Ser58=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003536595] | Chr5:55226878 [GRCh38] Chr5:54522706 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.607-12C>T | single nucleotide variant | Primary ciliary dyskinesia [RCV003536678] | Chr5:55221138 [GRCh38] Chr5:54516966 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.383-10TCT[3] | microsatellite | Primary ciliary dyskinesia [RCV003535431] | Chr5:55222403..55222404 [GRCh38] Chr5:54518231..54518232 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.310-11G>T | single nucleotide variant | Primary ciliary dyskinesia [RCV003537580] | Chr5:55223034 [GRCh38] Chr5:54518862 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003536695] | Chr5:55220399 [GRCh38] Chr5:54516227 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.72A>G (p.Ala24=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003539226] | Chr5:55227067 [GRCh38] Chr5:54522895 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.721C>T (p.Leu241=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003535392] | Chr5:55220803 [GRCh38] Chr5:54516631 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.219C>T (p.Ala73=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003537010] | Chr5:55226666 [GRCh38] Chr5:54522494 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.309+9C>G | single nucleotide variant | Primary ciliary dyskinesia [RCV003537893] | Chr5:55226567 [GRCh38] Chr5:54522395 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1053C>T (p.Arg351=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003539040] | Chr5:55220471 [GRCh38] Chr5:54516299 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.222C>G (p.Leu74=) | single nucleotide variant | Primary ciliary dyskinesia [RCV003536877] | Chr5:55226663 [GRCh38] Chr5:54522491 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.218-4G>A | single nucleotide variant | Primary ciliary dyskinesia [RCV003536234] | Chr5:55226671 [GRCh38] Chr5:54522499 [GRCh37] Chr5:5q11.2 |
likely benign |
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 | copy number loss | not specified [RCV003986571] | Chr5:49430268..57925870 [GRCh37] Chr5:5q11.1-11.2 |
likely pathogenic |
NM_001190787.3(MCIDAS):c.83G>A (p.Arg28Gln) | single nucleotide variant | Inborn genetic diseases [RCV004419159] | Chr5:55227056 [GRCh38] Chr5:54522884 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.464G>A (p.Cys155Tyr) | single nucleotide variant | Inborn genetic diseases [RCV004419156] | Chr5:55222318 [GRCh38] Chr5:54518146 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.470C>T (p.Ser157Phe) | single nucleotide variant | Inborn genetic diseases [RCV004419157] | Chr5:55222312 [GRCh38] Chr5:54518140 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.773T>C (p.Leu258Pro) | single nucleotide variant | Inborn genetic diseases [RCV004419158] | Chr5:55220751 [GRCh38] Chr5:54516579 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.999C>A (p.Ser333Arg) | single nucleotide variant | Inborn genetic diseases [RCV004419160] | Chr5:55220525 [GRCh38] Chr5:54516353 [GRCh37] Chr5:5q11.2 |
likely benign |
NM_001190787.3(MCIDAS):c.1055T>A (p.Ile352Asn) | single nucleotide variant | Inborn genetic diseases [RCV004419155] | Chr5:55220469 [GRCh38] Chr5:54516297 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.1036G>A (p.Gly346Ser) | single nucleotide variant | Inborn genetic diseases [RCV004419154] | Chr5:55220488 [GRCh38] Chr5:54516316 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.760G>A (p.Glu254Lys) | single nucleotide variant | Inborn genetic diseases [RCV004637831] | Chr5:55220764 [GRCh38] Chr5:54516592 [GRCh37] Chr5:5q11.2 |
uncertain significance |
NM_001190787.3(MCIDAS):c.556G>A (p.Ala186Thr) | single nucleotide variant | Inborn genetic diseases [RCV004637832] | Chr5:55222226 [GRCh38] Chr5:54518054 [GRCh37] Chr5:5q11.2 |
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 |
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
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
191 | 963 | 915 | 734 | 3111 | 1144 | 1760 | 3 | 261 | 426 | 117 | 1180 | 2247 | 1693 | 49 | 2105 | 561 | 1329 | 1417 | 156 |
RefSeq Transcripts | NG_051620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001190787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017009439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC091977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CP068273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FR854393 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000513312 ⟹ ENSP00000426359 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000513468 ⟹ ENSP00000422165 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000515336 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001190787 ⟹ NP_001177716 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001177716 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | CCA89438 | (Get FASTA) | NCBI Sequence Viewer |
D6RGH6 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000422165.1 | ||
ENSP00000426359 | |||
ENSP00000426359.1 |
RefSeq Acc Id: | NP_001177716 ⟸ NM_001190787 |
- UniProtKB: | D6R920 (UniProtKB/Swiss-Prot), C9JGY3 (UniProtKB/Swiss-Prot), F8KGQ8 (UniProtKB/Swiss-Prot), D6RGH6 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000426359 ⟸ ENST00000513312 |
Ensembl Acc Id: | ENSP00000422165 ⟸ ENST00000513468 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D6RGH6-F1-model_v2 | AlphaFold | D6RGH6 | 1-385 | view protein structure |
RGD ID: | 6869610 | ||||||||
Promoter ID: | EPDNEW_H7970 | ||||||||
Type: | initiation region | ||||||||
Name: | MCIDAS_1 | ||||||||
Description: | multiciliate differentiation and DNA synthesis associated cellcycle protein | ||||||||
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:40050 | AgrOrtholog |
COSMIC | MCIDAS | COSMIC |
Ensembl Genes | ENSG00000234602 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000513312 | ENTREZGENE |
ENST00000513312.3 | UniProtKB/Swiss-Prot | |
ENST00000513468.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | Geminin coiled-coil domain | UniProtKB/Swiss-Prot |
GTEx | ENSG00000234602 | GTEx |
HGNC ID | HGNC:40050 | ENTREZGENE |
Human Proteome Map | MCIDAS | Human Proteome Map |
InterPro | Geminin/Multicilin | UniProtKB/Swiss-Prot |
KEGG Report | hsa:345643 | UniProtKB/Swiss-Prot |
NCBI Gene | MCIN | ENTREZGENE |
OMIM | 614086 | OMIM |
PANTHER | GEMININ | UniProtKB/Swiss-Prot |
PTHR13372:SF3 | UniProtKB/Swiss-Prot | |
Pfam | Geminin | UniProtKB/Swiss-Prot |
PharmGKB | PA166049068 | PharmGKB |
Superfamily-SCOP | Geminin coiled-coil domain | UniProtKB/Swiss-Prot |
UniProt | C9JGY3 | ENTREZGENE |
D6R920 | ENTREZGENE | |
D6RGH6 | ENTREZGENE | |
F8KGQ8 | ENTREZGENE | |
I6L8E2_HUMAN | UniProtKB/TrEMBL | |
MCIN_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | C9JGY3 | UniProtKB/Swiss-Prot |
D6R920 | UniProtKB/Swiss-Prot | |
F8KGQ8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2013-03-12 | MCIDAS | multiciliate differentiation and DNA synthesis associated cell cycle protein | MCIN | multiciliate cell differentiation 1 | Symbol and/or name change | 5135510 | APPROVED |