Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | LYRM4 | Human | combined oxidative phosphorylation deficiency 19 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | LYRM4 | Human | combined oxidative phosphorylation deficiency 19 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. | Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:8889548 | PMID:11342225 | PMID:12477932 | PMID:14574404 | PMID:14702039 | PMID:15489334 | PMID:16341090 | PMID:16344560 | PMID:17331979 | PMID:18029348 | PMID:18650437 | PMID:19068216 |
PMID:19174780 | PMID:19422935 | PMID:19454487 | PMID:19760754 | PMID:19913121 | PMID:20628086 | PMID:20877624 | PMID:20886065 | PMID:21072187 | PMID:21298097 | PMID:21873635 | PMID:21968932 |
PMID:21988832 | PMID:21998595 | PMID:22277967 | PMID:23509962 | PMID:23593335 | PMID:23814038 | PMID:26186194 | PMID:26342079 | PMID:26344197 | PMID:26496610 | PMID:27427956 | PMID:27499296 |
PMID:27519411 | PMID:28271877 | PMID:28380382 | PMID:28514442 | PMID:28634302 | PMID:29097656 | PMID:29568061 | PMID:29983374 | PMID:30572598 | PMID:31056398 | PMID:31101807 | PMID:31664822 |
PMID:31871319 | PMID:32457219 | PMID:32628020 | PMID:32877691 | PMID:33660365 | PMID:33957083 | PMID:33961781 | PMID:34079125 | PMID:34373451 | PMID:34800366 | PMID:34824239 | PMID:35256949 |
PMID:35819319 | PMID:35831314 | PMID:37866880 |
LYRM4 (Homo sapiens - human) |
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Lyrm4 (Mus musculus - house mouse) |
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Lyrm4 (Rattus norvegicus - Norway rat) |
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Lyrm4 (Chinchilla lanigera - long-tailed chinchilla) |
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LYRM4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LYRM4 (Canis lupus familiaris - dog) |
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Lyrm4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LYRM4 (Sus scrofa - pig) |
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LYRM4 (Chlorocebus sabaeus - green monkey) |
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Lyrm4 (Heterocephalus glaber - naked mole-rat) |
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Variants in LYRM4
100 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_020408.6(LYRM4):c.203G>T (p.Arg68Leu) | single nucleotide variant | Combined oxidative phosphorylation deficiency 19 [RCV000088687] | Chr6:5216622 [GRCh38] Chr6:5216855 [GRCh37] Chr6:6p25.1 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1 | copy number loss | See cases [RCV000050686] | Chr6:163083..6062800 [GRCh38] Chr6:163083..6063033 [GRCh37] Chr6:108083..6008032 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 | copy number gain | See cases [RCV000051896] | Chr6:389423..13474956 [GRCh38] Chr6:389423..13475188 [GRCh37] Chr6:334423..13583167 [NCBI36] Chr6:6p25.3-23 |
pathogenic |
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 | copy number gain | See cases [RCV000051869] | Chr6:106431..18360595 [GRCh38] Chr6:106431..18360826 [GRCh37] Chr6:51431..18468805 [NCBI36] Chr6:6p25.3-22.3 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3 | copy number gain | See cases [RCV000051870] | Chr6:144957..5239181 [GRCh38] Chr6:144957..5239414 [GRCh37] Chr6:89957..5184413 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:162883-5979198)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|See cases [RCV000052160] | Chr6:162883..5979198 [GRCh38] Chr6:162883..5979431 [GRCh37] Chr6:107883..5924430 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1 | copy number loss | See cases [RCV000052161] | Chr6:163083..5875402 [GRCh38] Chr6:163083..5875635 [GRCh37] Chr6:108083..5820634 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 | copy number loss | See cases [RCV000052163] | Chr6:164633..6284237 [GRCh38] Chr6:164633..6284470 [GRCh37] Chr6:109633..6229469 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1 | copy number loss | See cases [RCV000052164] | Chr6:164633..5823601 [GRCh38] Chr6:164633..5823834 [GRCh37] Chr6:109633..5768833 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 | copy number loss | See cases [RCV000052165] | Chr6:165675..9036034 [GRCh38] Chr6:165675..9036267 [GRCh37] Chr6:110675..8981266 [NCBI36] Chr6:6p25.3-24.3 |
pathogenic |
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 | copy number loss | See cases [RCV000052177] | Chr6:4427090..8391140 [GRCh38] Chr6:4427324..8391373 [GRCh37] Chr6:4372323..8336372 [NCBI36] Chr6:6p25.1-24.3 |
pathogenic |
NR_126015.1(LOC100129461):n.238-3852A>T | single nucleotide variant | Lung cancer [RCV000096938] | Chr6:5068747 [GRCh38] Chr6:5068981 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001164841.2(LYRM4):c.*42-13211A>G | single nucleotide variant | Lung cancer [RCV000096941] | Chr6:5122702 [GRCh38] Chr6:5122936 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.569T>A (p.Leu190His) | single nucleotide variant | not specified [RCV004252690] | Chr6:5086054 [GRCh38] Chr6:5086288 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 | copy number gain | See cases [RCV000134022] | Chr6:164360..13339881 [GRCh38] Chr6:164360..13340113 [GRCh37] Chr6:109360..13448092 [NCBI36] Chr6:6p25.3-24.1 |
pathogenic |
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 | copy number gain | See cases [RCV000136567] | Chr6:163083..9525496 [GRCh38] Chr6:163083..9525729 [GRCh37] Chr6:108083..9633715 [NCBI36] Chr6:6p25.3-24.3 |
pathogenic |
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 | copy number loss | See cases [RCV000136132] | Chr6:4068792..13267799 [GRCh38] Chr6:4069026..13268031 [GRCh37] Chr6:4014025..13376010 [NCBI36] Chr6:6p25.2-24.1 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1 | copy number loss | See cases [RCV000137496] | Chr6:152634..5315679 [GRCh38] Chr6:152634..5315912 [GRCh37] Chr6:97634..5260911 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 | copy number gain | See cases [RCV000138121] | Chr6:152634..15732163 [GRCh38] Chr6:152634..15732394 [GRCh37] Chr6:97634..15840373 [NCBI36] Chr6:6p25.3-22.3 |
likely benign |
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3 | copy number gain | See cases [RCV000138716] | Chr6:152634..6027547 [GRCh38] Chr6:152634..6027780 [GRCh37] Chr6:97634..5972779 [NCBI36] Chr6:6p25.3-25.1 |
likely pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1 | copy number loss | See cases [RCV000138717] | Chr6:152634..6027547 [GRCh38] Chr6:152634..6027780 [GRCh37] Chr6:97634..5972779 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 | copy number gain | See cases [RCV000138956] | Chr6:3224310..30657190 [GRCh38] Chr6:3224544..30624967 [GRCh37] Chr6:3169543..30732946 [NCBI36] Chr6:6p25.2-21.33 |
pathogenic |
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 | copy number gain | See cases [RCV000140307] | Chr6:155807..17058414 [GRCh38] Chr6:155807..17058645 [GRCh37] Chr6:100807..17166624 [NCBI36] Chr6:6p25.3-22.3 |
pathogenic |
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 | copy number gain | See cases [RCV000142295] | Chr6:156974..11550817 [GRCh38] Chr6:156974..11551050 [GRCh37] Chr6:101974..11659036 [NCBI36] Chr6:6p25.3-24.2 |
likely pathogenic |
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 | copy number loss | See cases [RCV000142299] | Chr6:156974..7122759 [GRCh38] Chr6:156974..7122992 [GRCh37] Chr6:101974..7067991 [NCBI36] Chr6:6p25.3-24.3 |
pathogenic |
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 | copy number loss | See cases [RCV000142435] | Chr6:2862640..16697788 [GRCh38] Chr6:2862874..16698019 [GRCh37] Chr6:2807873..16805998 [NCBI36] Chr6:6p25.2-22.3 |
pathogenic |
GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 | copy number loss | See cases [RCV000142916] | Chr6:152634..6289804 [GRCh38] Chr6:152634..6290037 [GRCh37] Chr6:97634..6235036 [NCBI36] Chr6:6p25.3-25.1 |
pathogenic |
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 | copy number gain | See cases [RCV000143334] | Chr6:152634..14417003 [GRCh38] Chr6:152634..14417234 [GRCh37] Chr6:97634..14525213 [NCBI36] Chr6:6p25.3-23 |
pathogenic |
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 | copy number gain | See cases [RCV000143698] | Chr6:156974..13081201 [GRCh38] Chr6:156974..13081433 [GRCh37] Chr6:101974..13189419 [NCBI36] Chr6:6p25.3-24.1 |
likely pathogenic |
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 | copy number loss | See cases [RCV000143782] | Chr6:156974..13855925 [GRCh38] Chr6:156974..13856156 [GRCh37] Chr6:101974..13964135 [NCBI36] Chr6:6p25.3-23 |
pathogenic |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 | copy number loss | See cases [RCV000240433] | Chr6:204009..11608587 [GRCh37] Chr6:6p25.3-24.1 |
pathogenic |
GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1 | copy number loss | See cases [RCV000240475] | Chr6:204009..6447311 [GRCh37] Chr6:6p25.3-25.1 |
pathogenic |
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 | copy number gain | See cases [RCV000240460] | Chr6:168775..24023234 [GRCh37] Chr6:6p25.3-22.3 |
pathogenic |
NM_020408.6(LYRM4):c.-10dup | duplication | not specified [RCV000601403] | Chr6:5260742..5260743 [GRCh38] Chr6:5260975..5260976 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5210792-5339437)x1 | copy number loss | See cases [RCV000447670] | Chr6:5210792..5339437 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 | copy number gain | See cases [RCV000446145] | Chr6:302272..18375047 [GRCh37] Chr6:6p25.3-22.3 |
pathogenic |
NM_020408.6(LYRM4):c.207+18T>C | single nucleotide variant | not provided [RCV002062564]|not specified [RCV000441282] | Chr6:5216600 [GRCh38] Chr6:5216833 [GRCh37] Chr6:6p25.1 |
benign|likely benign |
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 | copy number gain | See cases [RCV000445742] | Chr6:156974..8349511 [GRCh37] Chr6:6p25.3-24.3 |
pathogenic |
NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala) | single nucleotide variant | Combined oxidative phosphorylation deficiency 19 [RCV001775791]|not provided [RCV000676850]|not specified [RCV000443713] | Chr6:5260703 [GRCh38] Chr6:5260936 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5081988-5401617)x3 | copy number gain | See cases [RCV000449005] | Chr6:5081988..5401617 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_020408.6(LYRM4):c.87-18del | deletion | not specified [RCV000484785] | Chr6:5216756 [GRCh38] Chr6:5216989 [GRCh37] Chr6:6p25.1 |
likely benign |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.1(chr6:4338840-5164497)x3 | copy number gain | See cases [RCV000511977] | Chr6:4338840..5164497 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1 | copy number loss | See cases [RCV000511093] | Chr6:156974..6417749 [GRCh37] Chr6:6p25.3-25.1 |
pathogenic |
GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1 | copy number loss | See cases [RCV000510749] | Chr6:2109893..5962832 [GRCh37] Chr6:6p25.3-25.1 |
pathogenic |
NM_020408.6(LYRM4):c.33T>G (p.Ser11=) | single nucleotide variant | LYRM4-related disorder [RCV003945514]|not provided [RCV000907783]|not specified [RCV000612634] | Chr6:5260701 [GRCh38] Chr6:5260934 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_001145115.3(PPP1R3G):c.997T>C (p.Cys333Arg) | single nucleotide variant | not specified [RCV004313378] | Chr6:5086482 [GRCh38] Chr6:5086716 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.-46T>C | single nucleotide variant | not specified [RCV000606129] | Chr6:5260779 [GRCh38] Chr6:5261012 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.7G>A (p.Ala3Thr) | single nucleotide variant | Combined oxidative phosphorylation deficiency 19 [RCV000660465] | Chr6:5260727 [GRCh38] Chr6:5260960 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:4920229-5624099)x3 | copy number gain | not provided [RCV000682637] | Chr6:4920229..5624099 [GRCh37] Chr6:6p25.1 |
likely benign |
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 | copy number loss | not provided [RCV000682638] | Chr6:4990661..10358695 [GRCh37] Chr6:6p25.1-24.3 |
pathogenic |
GRCh37/hg19 6p25.1(chr6:5081988-5402772)x3 | copy number gain | not provided [RCV000682639] | Chr6:5081988..5402772 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 | copy number gain | not provided [RCV000682628] | Chr6:156974..13502033 [GRCh37] Chr6:6p25.3-23 |
pathogenic |
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 | copy number gain | not provided [RCV000682629] | Chr6:156974..21955964 [GRCh37] Chr6:6p25.3-22.3 |
pathogenic |
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 | copy number gain | not provided [RCV000682633] | Chr6:1860928..8884071 [GRCh37] Chr6:6p25.3-24.3 |
likely pathogenic |
GRCh37/hg19 6p25.1(chr6:5172637-5454482)x1 | copy number loss | not provided [RCV000682640] | Chr6:5172637..5454482 [GRCh37] Chr6:6p25.1 |
uncertain significance |
Single allele | duplication | not provided [RCV000677944] | Chr6:168775..24023234 [GRCh37] Chr6:6p25.3-22.3 |
pathogenic |
NC_000006.11:g.5193615_5281296del | deletion | Combined oxidative phosphorylation defect type 14 [RCV000714946] | Chr6:5193613..5281294 [GRCh37] Chr6:6p25.1 |
likely pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.1(chr6:5122729-5135886)x1 | copy number loss | not provided [RCV000745443] | Chr6:5122729..5135886 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5135156-5135969)x0 | copy number loss | not provided [RCV000745444] | Chr6:5135156..5135969 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5148918-5208761)x3 | copy number gain | not provided [RCV000745445] | Chr6:5148918..5208761 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5235602-5384079)x1 | copy number loss | not provided [RCV000745446] | Chr6:5235602..5384079 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-34617G>C | single nucleotide variant | not provided [RCV001669387] | Chr6:5144108 [GRCh38] Chr6:5144342 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.5(LYRM4):c.-297G>A | single nucleotide variant | not provided [RCV000835698] | Chr6:5261030 [GRCh38] Chr6:5261263 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.-170C>T | single nucleotide variant | not provided [RCV000835699] | Chr6:5260903 [GRCh38] Chr6:5261136 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.5(LYRM4):c.-494T>G | single nucleotide variant | not provided [RCV000840435] | Chr6:5261227 [GRCh38] Chr6:5261460 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5013340-5248673)x3 | copy number gain | not provided [RCV000848677] | Chr6:5013340..5248673 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5233209-5474230)x1 | copy number loss | not provided [RCV000847687] | Chr6:5233209..5474230 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5007869-5152550)x3 | copy number gain | not provided [RCV000849088] | Chr6:5007869..5152550 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.78C>T (p.Tyr26=) | single nucleotide variant | not provided [RCV000998513] | Chr6:5260656 [GRCh38] Chr6:5260889 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.87-39G>A | single nucleotide variant | not provided [RCV000835548] | Chr6:5216777 [GRCh38] Chr6:5217010 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.5(LYRM4):c.-326C>T | single nucleotide variant | not provided [RCV000835648] | Chr6:5261059 [GRCh38] Chr6:5261292 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:4812509-5158081)x4 | copy number gain | not provided [RCV000848444] | Chr6:4812509..5158081 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.208-258dup | duplication | not provided [RCV000840437] | Chr6:5109748..5109749 [GRCh38] Chr6:5109982..5109983 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5203706-5396596)x1 | copy number loss | not provided [RCV000849813] | Chr6:5203706..5396596 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.5(LYRM4):c.-393T>C | single nucleotide variant | not provided [RCV000840427] | Chr6:5261126 [GRCh38] Chr6:5261359 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-34467G>A | single nucleotide variant | not provided [RCV000840428] | Chr6:5143958 [GRCh38] Chr6:5144192 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-34464A>G | single nucleotide variant | not provided [RCV000840429] | Chr6:5143955 [GRCh38] Chr6:5144189 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-273G>T | single nucleotide variant | not provided [RCV000840430] | Chr6:5109764 [GRCh38] Chr6:5109998 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-34942G>A | single nucleotide variant | not provided [RCV000840431] | Chr6:5144433 [GRCh38] Chr6:5144667 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-256G>A | single nucleotide variant | not provided [RCV000840432] | Chr6:5109747 [GRCh38] Chr6:5109981 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-220G>A | single nucleotide variant | not provided [RCV000840433] | Chr6:5109711 [GRCh38] Chr6:5109945 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5081989-5402057)x3 | copy number gain | not provided [RCV000846692] | Chr6:5081989..5402057 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5043275-5895707)x3 | copy number gain | not provided [RCV000847037] | Chr6:5043275..5895707 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5254548-5360749)x1 | copy number loss | not provided [RCV000848689] | Chr6:5254548..5360749 [GRCh37] Chr6:6p25.1 |
pathogenic |
GRCh37/hg19 6p25.1(chr6:4958487-5127735)x4 | copy number gain | not provided [RCV000849691] | Chr6:4958487..5127735 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 | copy number gain | not provided [RCV000848108] | Chr6:156974..23221621 [GRCh37] Chr6:6p25.3-22.3 |
pathogenic |
NM_020408.6(LYRM4):c.169A>C (p.Asn57His) | single nucleotide variant | not specified [RCV004295623] | Chr6:5216656 [GRCh38] Chr6:5216889 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.203G>C (p.Arg68Pro) | single nucleotide variant | not specified [RCV004313489] | Chr6:5216622 [GRCh38] Chr6:5216855 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.86+130G>C | single nucleotide variant | not provided [RCV001714485] | Chr6:5260518 [GRCh38] Chr6:5260751 [GRCh37] Chr6:6p25.1 |
benign |
NM_001145115.3(PPP1R3G):c.752G>C (p.Arg251Pro) | single nucleotide variant | not specified [RCV004290253] | Chr6:5086237 [GRCh38] Chr6:5086471 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.*65A>C | single nucleotide variant | not provided [RCV001718562] | Chr6:5109358 [GRCh38] Chr6:5109592 [GRCh37] Chr6:6p25.1 |
benign |
NM_001145115.3(PPP1R3G):c.834G>C (p.Glu278Asp) | single nucleotide variant | not specified [RCV004205703] | Chr6:5086319 [GRCh38] Chr6:5086553 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.87-111G>A | single nucleotide variant | not provided [RCV001689369] | Chr6:5216849 [GRCh38] Chr6:5217082 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.86+69G>C | single nucleotide variant | not provided [RCV001717008] | Chr6:5260579 [GRCh38] Chr6:5260812 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.87-97A>G | single nucleotide variant | not provided [RCV001718111] | Chr6:5216835 [GRCh38] Chr6:5217068 [GRCh37] Chr6:6p25.1 |
benign |
GRCh37/hg19 6p25.1(chr6:5043132-5896220)x3 | copy number gain | not provided [RCV001007550] | Chr6:5043132..5896220 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.86+65T>C | single nucleotide variant | not provided [RCV001674207] | Chr6:5260583 [GRCh38] Chr6:5260816 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-35015C>T | single nucleotide variant | not provided [RCV001669042] | Chr6:5144506 [GRCh38] Chr6:5144740 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.207+29952C>A | single nucleotide variant | not provided [RCV001689535] | Chr6:5186666 [GRCh38] Chr6:5186900 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.-11_-10dup | duplication | Combined oxidative phosphorylation defect type 14 [RCV002503168]|not provided [RCV001714252] | Chr6:5260742..5260743 [GRCh38] Chr6:5260975..5260976 [GRCh37] Chr6:6p25.1 |
benign|likely benign |
GRCh37/hg19 6p25.1(chr6:5176631-5854127)x1 | copy number loss | not provided [RCV001005764] | Chr6:5176631..5854127 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5210792-5639420)x1 | copy number loss | not provided [RCV001005765] | Chr6:5210792..5639420 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5105467-5623386)x3 | copy number gain | not provided [RCV001258897] | Chr6:5105467..5623386 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:4815620-5304909)x3 | copy number gain | not provided [RCV001258900] | Chr6:4815620..5304909 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.86+187G>A | single nucleotide variant | not provided [RCV001538784] | Chr6:5260461 [GRCh38] Chr6:5260461..5260462 [GRCh38] Chr6:5260694 [GRCh37] Chr6:5260694..5260695 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.207+29634del | deletion | not provided [RCV001527850] | Chr6:5186984 [GRCh38] Chr6:5187218 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu) | single nucleotide variant | Combined oxidative phosphorylation deficiency 19 [RCV001329139] | Chr6:5216653 [GRCh38] Chr6:5216886 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.207+201G>A | single nucleotide variant | not provided [RCV001680148] | Chr6:5216417 [GRCh38] Chr6:5216650 [GRCh37] Chr6:6p25.1 |
benign |
NC_000006.12:g.5261075T>G | single nucleotide variant | not provided [RCV001617525] | Chr6:5261075 [GRCh38] Chr6:5261308 [GRCh37] Chr6:6p25.1 |
benign |
NC_000006.12:g.5261241_5261264del | deletion | not provided [RCV001715869] | Chr6:5261234..5261257 [GRCh38] Chr6:5261467..5261490 [GRCh37] Chr6:6p25.1 |
benign |
NM_020408.6(LYRM4):c.208-34463T>C | single nucleotide variant | not provided [RCV001769565] | Chr6:5143954 [GRCh38] Chr6:5144188 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.207+30081G>C | single nucleotide variant | not provided [RCV001769878] | Chr6:5186537 [GRCh38] Chr6:5186771 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.*7G>A | single nucleotide variant | not provided [RCV001769743] | Chr6:5109416 [GRCh38] Chr6:5109650 [GRCh37] Chr6:6p25.1 |
likely benign |
NC_000006.12:g.5261155C>T | single nucleotide variant | not provided [RCV001752980] | Chr6:5261155 [GRCh38] Chr6:5261388 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.207+29913G>A | single nucleotide variant | not provided [RCV001767917] | Chr6:5186705 [GRCh38] Chr6:5186939 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.86+248G>A | single nucleotide variant | not provided [RCV001769900] | Chr6:5260400 [GRCh38] Chr6:5260633 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.207+29892C>T | single nucleotide variant | not provided [RCV001768199] | Chr6:5186726 [GRCh38] Chr6:5186960 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.207+274dup | duplication | not provided [RCV001757616] | Chr6:5216343..5216344 [GRCh38] Chr6:5216576..5216577 [GRCh37] Chr6:6p25.1 |
likely benign |
GRCh37/hg19 6p25.1(chr6:5210792-5339437) | copy number loss | not specified [RCV002053550] | Chr6:5210792..5339437 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5248338-5395099) | copy number loss | not specified [RCV002053551] | Chr6:5248338..5395099 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5125950-5431584)x1 | copy number loss | not provided [RCV001827662] | Chr6:5125950..5431584 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5081988-5401617) | copy number gain | not specified [RCV002053549] | Chr6:5081988..5401617 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NC_000006.11:g.(?_5109657)_(5369435_?)dup | duplication | Combined oxidative phosphorylation defect type 14 [RCV001958251] | Chr6:5109657..5369435 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NC_000006.11:g.(?_5109657)_(5771662_?)dup | duplication | Combined oxidative phosphorylation defect type 14 [RCV001962714] | Chr6:5109657..5771662 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NC_000006.11:g.(?_5109657)_(5404954_?)dup | duplication | Combined oxidative phosphorylation defect type 14 [RCV001978893] | Chr6:5109657..5404954 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.36_37del (p.Tyr13fs) | deletion | not provided [RCV002036146] | Chr6:5260697..5260698 [GRCh38] Chr6:5260930..5260931 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NC_000006.11:g.(?_5260861)_(5369435_?)del | deletion | Combined oxidative phosphorylation defect type 14 [RCV002014822] | Chr6:5260861..5369435 [GRCh37] Chr6:6p25.1 |
pathogenic |
NM_020408.6(LYRM4):c.19G>A (p.Ala7Thr) | single nucleotide variant | not provided [RCV001938250] | Chr6:5260715 [GRCh38] Chr6:5260948 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.8C>T (p.Ala3Val) | single nucleotide variant | not provided [RCV002012895] | Chr6:5260726 [GRCh38] Chr6:5260959 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.109A>C (p.Arg37=) | single nucleotide variant | not provided [RCV002140878] | Chr6:5216716 [GRCh38] Chr6:5216949 [GRCh37] Chr6:6p25.1 |
likely benign |
NC_000006.11:g.(?_5109657)_(6320826_?)del | deletion | Combined oxidative phosphorylation defect type 14 [RCV003109536] | Chr6:5109657..6320826 [GRCh37] Chr6:6p25.1 |
pathogenic |
NC_000006.11:g.(?_5216831)_(5431425_?)del | deletion | Combined oxidative phosphorylation defect type 14 [RCV003109538] | Chr6:5216831..5431425 [GRCh37] Chr6:6p25.1 |
pathogenic |
NM_001145115.3(PPP1R3G):c.86C>G (p.Ala29Gly) | single nucleotide variant | not specified [RCV004310420] | Chr6:5085571 [GRCh38] Chr6:5085805 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5137260-5409721)x1 | copy number loss | See cases [RCV002287556] | Chr6:5137260..5409721 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.919C>T (p.Pro307Ser) | single nucleotide variant | not specified [RCV004181000] | Chr6:5086404 [GRCh38] Chr6:5086638 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.935C>T (p.Pro312Leu) | single nucleotide variant | not specified [RCV004154047] | Chr6:5086420 [GRCh38] Chr6:5086654 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.566C>G (p.Pro189Arg) | single nucleotide variant | not specified [RCV004089046] | Chr6:5086051 [GRCh38] Chr6:5086285 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.787G>C (p.Val263Leu) | single nucleotide variant | not specified [RCV004174969] | Chr6:5086272 [GRCh38] Chr6:5086506 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.248G>A (p.Arg83His) | single nucleotide variant | not specified [RCV004097440] | Chr6:5085733 [GRCh38] Chr6:5085967 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.199C>T (p.Pro67Ser) | single nucleotide variant | not specified [RCV004096263] | Chr6:5085684 [GRCh38] Chr6:5085918 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5132544-5407464)x1 | copy number loss | not provided [RCV002475673] | Chr6:5132544..5407464 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.433G>C (p.Val145Leu) | single nucleotide variant | not specified [RCV004240588] | Chr6:5085918 [GRCh38] Chr6:5086152 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.118G>A (p.Asp40Asn) | single nucleotide variant | not specified [RCV004183511] | Chr6:5085603 [GRCh38] Chr6:5085837 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.229T>G (p.Ser77Ala) | single nucleotide variant | not provided [RCV003080348] | Chr6:5109470 [GRCh38] Chr6:5109704 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.376G>A (p.Ala126Thr) | single nucleotide variant | not specified [RCV004232791] | Chr6:5085861 [GRCh38] Chr6:5086095 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.992A>G (p.Tyr331Cys) | single nucleotide variant | not specified [RCV004174907] | Chr6:5086477 [GRCh38] Chr6:5086711 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.556G>A (p.Val186Met) | single nucleotide variant | not specified [RCV004158049] | Chr6:5086041 [GRCh38] Chr6:5086275 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 | copy number gain | See cases [RCV002509885] | Chr6:820000..21700000 [GRCh37] Chr6:6p25.3-22.3 |
pathogenic |
NM_001145115.3(PPP1R3G):c.329G>A (p.Gly110Asp) | single nucleotide variant | not specified [RCV004131838] | Chr6:5085814 [GRCh38] Chr6:5086048 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.34C>G (p.Leu12Val) | single nucleotide variant | not specified [RCV004234573] | Chr6:5260700 [GRCh38] Chr6:5260933 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.40C>T (p.Arg14Trp) | single nucleotide variant | not specified [RCV004234574] | Chr6:5260694 [GRCh38] Chr6:5260927 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.533G>C (p.Gly178Ala) | single nucleotide variant | not specified [RCV004082809] | Chr6:5086018 [GRCh38] Chr6:5086252 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.208-34698G>C | single nucleotide variant | not specified [RCV004175762] | Chr6:5144189 [GRCh38] Chr6:5144423 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.440A>T (p.His147Leu) | single nucleotide variant | not specified [RCV004178770] | Chr6:5085925 [GRCh38] Chr6:5086159 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.207+29717A>G | single nucleotide variant | not specified [RCV004079948] | Chr6:5186901 [GRCh38] Chr6:5187135 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.89C>G (p.Pro30Arg) | single nucleotide variant | not specified [RCV004238643] | Chr6:5085574 [GRCh38] Chr6:5085808 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.75C>T (p.Ala25=) | single nucleotide variant | not provided [RCV003063573] | Chr6:5260659 [GRCh38] Chr6:5260892 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.187C>T (p.Leu63Phe) | single nucleotide variant | not provided [RCV002600691] | Chr6:5216638 [GRCh38] Chr6:5216871 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.901C>A (p.His301Asn) | single nucleotide variant | not specified [RCV004173622] | Chr6:5086386 [GRCh38] Chr6:5086620 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.124G>A (p.Glu42Lys) | single nucleotide variant | not provided [RCV003008414] | Chr6:5216701 [GRCh38] Chr6:5216934 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.160C>G (p.Leu54Val) | single nucleotide variant | not specified [RCV004180865] | Chr6:5085645 [GRCh38] Chr6:5085879 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.611C>G (p.Pro204Arg) | single nucleotide variant | not specified [RCV004073976] | Chr6:5086096 [GRCh38] Chr6:5086330 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.1054G>A (p.Ala352Thr) | single nucleotide variant | not specified [RCV004077764] | Chr6:5086539 [GRCh38] Chr6:5086773 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.207+29680G>T | single nucleotide variant | not specified [RCV004264953] | Chr6:5186938 [GRCh38] Chr6:5187172 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.207+29798G>T | single nucleotide variant | not specified [RCV004280557] | Chr6:5186820 [GRCh38] Chr6:5187054 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.362C>A (p.Pro121Gln) | single nucleotide variant | not provided [RCV004696360]|not specified [RCV004255702] | Chr6:5085847 [GRCh38] Chr6:5086081 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.17C>A (p.Ala6Glu) | single nucleotide variant | not specified [RCV004280806] | Chr6:5085502 [GRCh38] Chr6:5085736 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.200G>A (p.Arg67His) | single nucleotide variant | not specified [RCV004270408] | Chr6:5216625 [GRCh38] Chr6:5216858 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.208-34718C>G | single nucleotide variant | not specified [RCV004352346] | Chr6:5144209 [GRCh38] Chr6:5144443 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 | copy number gain | not provided [RCV003484635] | Chr6:156975..15478095 [GRCh37] Chr6:6p25.3-22.3 |
pathogenic |
NC_000006.11:g.(?_5172693)_(5459957_?)del | deletion | Combined oxidative phosphorylation defect type 14 [RCV003388184] | Chr6:5172693..5459957 [GRCh37] Chr6:6p25.1 |
pathogenic |
NM_020408.6(LYRM4):c.93T>C (p.Tyr31=) | single nucleotide variant | not provided [RCV003880281] | Chr6:5216732 [GRCh38] Chr6:5216965 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.106A>G (p.Ile36Val) | single nucleotide variant | not provided [RCV003881054] | Chr6:5216719 [GRCh38] Chr6:5216952 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NC_000006.11:g.(?_5108652)_(5261184_?)del | deletion | not specified [RCV003490876] | Chr6:5108652..5261184 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.248G>C (p.Arg83Pro) | single nucleotide variant | not specified [RCV004510009] | Chr6:5085733 [GRCh38] Chr6:5085967 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.835G>A (p.Ala279Thr) | single nucleotide variant | not specified [RCV004510017] | Chr6:5086320 [GRCh38] Chr6:5086554 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.235C>G (p.Arg79Gly) | single nucleotide variant | not specified [RCV004510008] | Chr6:5085720 [GRCh38] Chr6:5085954 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.814C>G (p.Leu272Val) | single nucleotide variant | not specified [RCV004510016] | Chr6:5086299 [GRCh38] Chr6:5086533 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5216289-5316709)x1 | copy number loss | not specified [RCV003986634] | Chr6:5216289..5316709 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5200686-5396374)x1 | copy number loss | not specified [RCV003986648] | Chr6:5200686..5396374 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.215T>C (p.Ile72Thr) | single nucleotide variant | not provided [RCV003720366] | Chr6:5109484 [GRCh38] Chr6:5109718 [GRCh37] Chr6:6p25.1 |
uncertain significance |
GRCh37/hg19 6p25.1(chr6:5172636-5200031)x1 | copy number loss | not specified [RCV003986610] | Chr6:5172636..5200031 [GRCh37] Chr6:6p25.1 |
pathogenic |
NM_020408.6(LYRM4):c.207+29632_207+29634dup | duplication | LYRM4-related disorder [RCV003941720] | Chr6:5186983..5186984 [GRCh38] Chr6:5187217..5187218 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_001145115.3(PPP1R3G):c.586C>G (p.Arg196Gly) | single nucleotide variant | not specified [RCV004510013] | Chr6:5086071 [GRCh38] Chr6:5086305 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.17C>G (p.Ala6Gly) | single nucleotide variant | not specified [RCV004510007] | Chr6:5085502 [GRCh38] Chr6:5085736 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.*9G>A | single nucleotide variant | LYRM4-related disorder [RCV003976823] | Chr6:5109414 [GRCh38] Chr6:5109648 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_001145115.3(PPP1R3G):c.485C>T (p.Ser162Leu) | single nucleotide variant | not specified [RCV004510011] | Chr6:5085970 [GRCh38] Chr6:5086204 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.491T>C (p.Leu164Pro) | single nucleotide variant | not specified [RCV004510012] | Chr6:5085976 [GRCh38] Chr6:5086210 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.887G>A (p.Gly296Asp) | single nucleotide variant | not specified [RCV004510018] | Chr6:5086372 [GRCh38] Chr6:5086606 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_001145115.3(PPP1R3G):c.89C>T (p.Pro30Leu) | single nucleotide variant | not specified [RCV004510019] | Chr6:5085574 [GRCh38] Chr6:5085808 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.208-29235A>G | single nucleotide variant | LYRM4-related disorder [RCV003899572] | Chr6:5138726 [GRCh38] Chr6:5138960 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_020408.6(LYRM4):c.208-5T>C | single nucleotide variant | LYRM4-related disorder [RCV003893838] | Chr6:5109496 [GRCh38] Chr6:5109730 [GRCh37] Chr6:6p25.1 |
likely benign |
NM_001145115.3(PPP1R3G):c.587G>A (p.Arg196Gln) | single nucleotide variant | not specified [RCV004510014] | Chr6:5086072 [GRCh38] Chr6:5086306 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.63G>C (p.Lys21Asn) | single nucleotide variant | not specified [RCV004411053] | Chr6:5260671 [GRCh38] Chr6:5260904 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.182G>A (p.Arg61Lys) | single nucleotide variant | not specified [RCV004411051] | Chr6:5216643 [GRCh38] Chr6:5216876 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.176C>G (p.Ala59Gly) | single nucleotide variant | not specified [RCV004411050] | Chr6:5216649 [GRCh38] Chr6:5216882 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NC_000006.11:g.(?_5216831)_(5216991_?)del | deletion | not provided [RCV004578879] | Chr6:5216831..5216991 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.184G>A (p.Asp62Asn) | single nucleotide variant | not specified [RCV004640344] | Chr6:5216641 [GRCh38] Chr6:5216874 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NC_000006.11:g.(?_5109657)_(5771662_?)del | deletion | Combined oxidative phosphorylation defect type 14 [RCV004578676] | Chr6:5109657..5771662 [GRCh37] Chr6:6p25.1 |
pathogenic |
NM_001145115.3(PPP1R3G):c.976C>A (p.His326Asn) | single nucleotide variant | not specified [RCV004656287] | Chr6:5086461 [GRCh38] Chr6:5086695 [GRCh37] Chr6:6p25.1 |
uncertain significance |
NM_020408.6(LYRM4):c.207+29656G>A | single nucleotide variant | not specified [RCV004636346] | Chr6:5186962 [GRCh38] Chr6:5187196 [GRCh37] Chr6:6p25.1 |
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 |
RH12460 |
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AL035373 |
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SHGC-108146 |
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SHGC-57597 |
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G20545 |
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A005W03 |
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D6S1789 |
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D13S1553 |
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D11S3374 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2436 | 2788 | 2247 | 4970 | 1725 | 2348 | 6 | 622 | 1949 | 464 | 2269 | 7293 | 6461 | 52 | 3733 | 850 | 1741 | 1614 | 173 | 1 |
Ensembl Acc Id: | ENST00000330636 ⟹ ENSP00000418787 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000455814 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000458438 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000463032 ⟹ ENSP00000417885 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000464010 ⟹ ENSP00000420026 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000468929 ⟹ ENSP00000418321 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000480566 ⟹ ENSP00000419928 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000500576 ⟹ ENSP00000443900 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000606472 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001164840 ⟹ NP_001158312 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001164841 ⟹ NP_001158313 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318782 ⟹ NP_001305711 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318783 ⟹ NP_001305712 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_020408 ⟹ NP_065141 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_104417 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_104418 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134856 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017011083 ⟹ XP_016866572 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017011084 ⟹ XP_016866573 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_054355978 ⟹ XP_054211953 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054355979 ⟹ XP_054211954 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_065141 ⟸ NM_020408 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A8K543 (UniProtKB/Swiss-Prot), Q5XKP1 (UniProtKB/Swiss-Prot), Q9HD34 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001158313 ⟸ NM_001164841 |
- Peptide Label: | isoform 3 |
- UniProtKB: | C9JRX8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001158312 ⟸ NM_001164840 |
- Peptide Label: | isoform 2 |
- UniProtKB: | F5H189 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001305712 ⟸ NM_001318783 |
- Peptide Label: | isoform 5 |
- Sequence: |
RefSeq Acc Id: | NP_001305711 ⟸ NM_001318782 |
- Peptide Label: | isoform 4 |
- UniProtKB: | C9JY28 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016866573 ⟸ XM_017011084 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016866572 ⟸ XM_017011083 |
- Peptide Label: | isoform X2 |
- Sequence: |
Ensembl Acc Id: | ENSP00000417885 ⟸ ENST00000463032 |
Ensembl Acc Id: | ENSP00000420026 ⟸ ENST00000464010 |
Ensembl Acc Id: | ENSP00000418321 ⟸ ENST00000468929 |
Ensembl Acc Id: | ENSP00000419928 ⟸ ENST00000480566 |
Ensembl Acc Id: | ENSP00000443900 ⟸ ENST00000500576 |
Ensembl Acc Id: | ENSP00000418787 ⟸ ENST00000330636 |
RefSeq Acc Id: | XP_054211953 ⟸ XM_054355978 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054211954 ⟸ XM_054355979 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9HD34-F1-model_v2 | AlphaFold | Q9HD34 | 1-91 | view protein structure |
RGD ID: | 6804234 | ||||||||
Promoter ID: | HG_KWN:52210 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001164840, NM_006567, OTTHUMT00000039744, UC003MWP.1, UC003MWQ.1, UC010JNU.1, UC010JNV.1 | ||||||||
Position: |
|
RGD ID: | 6871942 | ||||||||
Promoter ID: | EPDNEW_H9135 | ||||||||
Type: | initiation region | ||||||||
Name: | LYRM4_1 | ||||||||
Description: | LYR motif containing 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H9136 EPDNEW_H9138 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6871944 | ||||||||
Promoter ID: | EPDNEW_H9136 | ||||||||
Type: | initiation region | ||||||||
Name: | LYRM4_2 | ||||||||
Description: | LYR motif containing 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H9135 EPDNEW_H9138 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6871948 | ||||||||
Promoter ID: | EPDNEW_H9138 | ||||||||
Type: | initiation region | ||||||||
Name: | LYRM4_3 | ||||||||
Description: | LYR motif containing 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H9135 EPDNEW_H9136 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:21365 | AgrOrtholog |
COSMIC | LYRM4 | COSMIC |
Ensembl Genes | ENSG00000214113 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000330636 | ENTREZGENE |
ENST00000330636.9 | UniProtKB/Swiss-Prot | |
ENST00000463032 | ENTREZGENE | |
ENST00000463032.5 | UniProtKB/TrEMBL | |
ENST00000464010 | ENTREZGENE | |
ENST00000464010.5 | UniProtKB/TrEMBL | |
ENST00000468929 | ENTREZGENE | |
ENST00000468929.5 | UniProtKB/TrEMBL | |
ENST00000480566 | ENTREZGENE | |
ENST00000480566.5 | UniProtKB/TrEMBL | |
ENST00000500576 | ENTREZGENE | |
ENST00000500576.4 | UniProtKB/TrEMBL | |
GTEx | ENSG00000214113 | GTEx |
HGNC ID | HGNC:21365 | ENTREZGENE |
Human Proteome Map | LYRM4 | Human Proteome Map |
InterPro | Complex1_LYR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Complex1_LYR_LYRM4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ISC_assembly_LYR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:57128 | UniProtKB/Swiss-Prot |
NCBI Gene | 57128 | ENTREZGENE |
OMIM | 613311 | OMIM |
PANTHER | LYR MOTIF-CONTAINING PROTEIN 4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN C6ORF149 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Complex1_LYR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162394762 | PharmGKB |
UniProt | A8K543 | ENTREZGENE |
C9J799_HUMAN | UniProtKB/TrEMBL | |
C9JRX8 | ENTREZGENE, UniProtKB/TrEMBL | |
C9JY28 | ENTREZGENE, UniProtKB/TrEMBL | |
F5H189 | ENTREZGENE, UniProtKB/TrEMBL | |
H7C4Q5_HUMAN | UniProtKB/TrEMBL | |
LYRM4_HUMAN | UniProtKB/Swiss-Prot | |
Q5XKP1 | ENTREZGENE | |
Q9HD34 | ENTREZGENE | |
UniProt Secondary | A8K543 | UniProtKB/Swiss-Prot |
Q5XKP1 | UniProtKB/Swiss-Prot |