Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Induction of repulsive guidance molecule in neurons following sciatic nerve injury. | Doya H, etal., J Chem Neuroanat. 2006 Aug;32(1):74-7. Epub 2006 Jul 24. |
2. | RGMa inhibition promotes axonal growth and recovery after spinal cord injury. | Hata K, etal., J Cell Biol. 2006 Apr 10;173(1):47-58. Epub 2006 Apr 3. |
3. | RGMA and IL21R show association with experimental inflammation and multiple sclerosis. | Nohra R, etal., Genes Immun. 2010 Jun;11(4):279-93. Epub 2010 Jan 14. |
4. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | RGMA and neogenin protein expression are influenced by lens injury following optic nerve crush in the rat retina. | Schnichels S, etal., Graefes Arch Clin Exp Ophthalmol. 2012 Jan;250(1):39-50. doi: 10.1007/s00417-011-1791-9. Epub 2011 Sep 2. |
7. | Potential roles of the RGMa-FAK-Ras pathway in hippocampal mossy fiber sprouting in the pentylenetetrazole kindling model. | Song MY, etal., Mol Med Rep. 2015 Mar;11(3):1738-44. doi: 10.3892/mmr.2014.2993. Epub 2014 Nov 21. |
8. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
9. | CRMP-2 is involved in axon growth inhibition induced by RGMa in vitro and in vivo. | Wang T, etal., Mol Neurobiol. 2013 Jun;47(3):903-13. doi: 10.1007/s12035-012-8385-3. Epub 2012 Dec 30. |
10. | Electrical stimulation of olfactory bulb downregulates RGMa expression after ischemia/reperfusion injury in rats. | Zhang G, etal., Brain Res Bull. 2011 Oct 10;86(3-4):254-61. doi: 10.1016/j.brainresbull.2011.08.002. Epub 2011 Aug 5. |
PMID:11076863 | PMID:11230166 | PMID:11256614 | PMID:14702039 | PMID:15084667 | PMID:15258590 | PMID:15489334 | PMID:15489336 | PMID:15975920 | PMID:16169070 | PMID:16216939 | PMID:16303743 |
PMID:16344560 | PMID:16381901 | PMID:17472960 | PMID:17606441 | PMID:17615080 | PMID:18367154 | PMID:18485097 | PMID:19273616 | PMID:19303019 | PMID:19458235 | PMID:19698085 | PMID:21044950 |
PMID:21183991 | PMID:21467223 | PMID:21617229 | PMID:21873635 | PMID:22076499 | PMID:22367090 | PMID:22396795 | PMID:22566498 | PMID:22728873 | PMID:23028342 | PMID:23376485 | PMID:24024966 |
PMID:25133637 | PMID:25940091 | PMID:26496610 | PMID:26721439 | PMID:28842419 | PMID:29478698 | PMID:30798120 | PMID:31899158 | PMID:32296183 | PMID:33997000 | PMID:35028889 | PMID:35255492 |
PMID:35748872 |
RGMA (Homo sapiens - human) |
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Rgma (Mus musculus - house mouse) |
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Rgma (Rattus norvegicus - Norway rat) |
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Rgma (Chinchilla lanigera - long-tailed chinchilla) |
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RGMA (Pan paniscus - bonobo/pygmy chimpanzee) |
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RGMA (Canis lupus familiaris - dog) |
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Rgma (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RGMA (Sus scrofa - pig) |
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RGMA (Chlorocebus sabaeus - green monkey) |
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Rgma (Heterocephalus glaber - naked mole-rat) |
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Variants in RGMA
35 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 | copy number gain | See cases [RCV000052354] | Chr15:89679237..101978958 [GRCh38] Chr15:90222468..102519161 [GRCh37] Chr15:88023472..100336684 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] | Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 | copy number gain | See cases [RCV000052347] | Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 | copy number gain | See cases [RCV000052352] | Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.1(chr15:92780719-93487233)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052135]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052135]|See cases [RCV000052135] | Chr15:92780719..93487233 [GRCh38] Chr15:93323949..94030462 [GRCh37] Chr15:91124953..91831466 [NCBI36] Chr15:15q26.1 |
uncertain significance |
GRCh38/hg38 15q26.1(chr15:92170113-93438995)x1 | copy number loss | See cases [RCV000053225] | Chr15:92170113..93438995 [GRCh38] Chr15:92713343..93982224 [GRCh37] Chr15:90514347..91783228 [NCBI36] Chr15:15q26.1 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 | copy number gain | See cases [RCV000135858] | Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 | copy number gain | See cases [RCV000135568] | Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 | copy number gain | See cases [RCV000136849] | Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 | copy number gain | See cases [RCV000137264] | Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q26.1(chr15:93070246-93607464)x3 | copy number gain | See cases [RCV000138876] | Chr15:93070246..93607464 [GRCh38] Chr15:93613475..94150693 [GRCh37] Chr15:91414479..91951697 [NCBI36] Chr15:15q26.1 |
uncertain significance |
GRCh38/hg38 15q26.1(chr15:92900864-93043584)x1 | copy number loss | See cases [RCV000139809] | Chr15:92900864..93043584 [GRCh38] Chr15:93444094..93586814 [GRCh37] Chr15:91245098..91387818 [NCBI36] Chr15:15q26.1 |
likely pathogenic|uncertain significance |
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 | copy number gain | See cases [RCV000141431] | Chr15:93041524..101941326 [GRCh38] Chr15:93584754..102481529 [GRCh37] Chr15:91385758..100299052 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 | copy number gain | See cases [RCV000141899] | Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 | copy number gain | See cases [RCV000142915] | Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 | copy number gain | See cases [RCV000143019] | Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 | copy number gain | See cases [RCV000142727] | Chr15:88676575..98364743 [GRCh38] Chr15:89219806..98907972 [GRCh37] Chr15:87020810..96725495 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 | copy number gain | See cases [RCV000511332] | Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 | copy number loss | See cases [RCV000240535] | Chr15:92197136..102354857 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 | copy number gain | See cases [RCV000240602] | Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 | copy number gain | not provided [RCV000415836] | Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 | copy number gain | See cases [RCV000449119] | Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 | copy number gain | See cases [RCV000447123] | Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) | copy number loss | See cases [RCV000447603] | Chr15:90346994..102354798 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 | copy number gain | See cases [RCV000445978] | Chr15:89924847..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 | copy number gain | See cases [RCV000445705] | Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 | copy number gain | See cases [RCV000447765] | Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 | copy number gain | See cases [RCV000448044] | Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 | copy number loss | See cases [RCV000448680] | Chr15:88295992..94215607 [GRCh37] Chr15:15q25.3-26.1 |
pathogenic |
GRCh37/hg19 15q26.1(chr15:91589712-93889459)x1 | copy number loss | See cases [RCV000448390] | Chr15:91589712..93889459 [GRCh37] Chr15:15q26.1 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 | copy number gain | See cases [RCV000510717] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) | copy number gain | See cases [RCV000512019] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 | copy number gain | See cases [RCV000511719] | Chr15:93148806..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 | copy number gain | See cases [RCV000511629] | Chr15:86899001..98734014 [GRCh37] Chr15:15q25.3-26.3 |
likely pathogenic |
NM_020211.3(RGMA):c.1238T>C (p.Leu413Pro) | single nucleotide variant | Inborn genetic diseases [RCV003255111] | Chr15:93045113 [GRCh38] Chr15:93588343 [GRCh37] Chr15:15q26.1 |
uncertain significance |
Single allele | duplication | not provided [RCV000677926] | Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 | copy number gain | not provided [RCV000683718] | Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 | copy number gain | not provided [RCV000683703] | Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 | copy number gain | not provided [RCV000683710] | Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 | copy number gain | not provided [RCV000738864] | Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 | copy number gain | not provided [RCV000751387] | Chr15:90277151..102376761 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_020211.3(RGMA):c.62G>A (p.Arg21Lys) | single nucleotide variant | Inborn genetic diseases [RCV003268418] | Chr15:93072984 [GRCh38] Chr15:93616213 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.15-686T>C | single nucleotide variant | not provided [RCV000881400] | Chr15:93073717 [GRCh38] Chr15:93616946 [GRCh37] Chr15:15q26.1 |
benign |
NM_020211.3(RGMA):c.924C>T (p.Asp308=) | single nucleotide variant | not provided [RCV000884063] | Chr15:93045427 [GRCh38] Chr15:93588657 [GRCh37] Chr15:15q26.1 |
benign |
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 | copy number gain | not provided [RCV000846885] | Chr15:90288175..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1 | copy number loss | not provided [RCV000847986] | Chr15:91229877..93677014 [GRCh37] Chr15:15q26.1 |
pathogenic |
GRCh37/hg19 15q26.1(chr15:93498365-93714012)x3 | copy number gain | not provided [RCV000849254] | Chr15:93498365..93714012 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q26.1(chr15:93601771-94043109)x3 | copy number gain | not provided [RCV000849988] | Chr15:93601771..94043109 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.1166A>G (p.Asn389Ser) | single nucleotide variant | Inborn genetic diseases [RCV003274703] | Chr15:93045185 [GRCh38] Chr15:93588415 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.371C>T (p.Pro124Leu) | single nucleotide variant | Inborn genetic diseases [RCV003249162] | Chr15:93052267 [GRCh38] Chr15:93595497 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.1057G>A (p.Glu353Lys) | single nucleotide variant | Inborn genetic diseases [RCV003239965] | Chr15:93045294 [GRCh38] Chr15:93588524 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 | copy number loss | not provided [RCV001006718] | Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q26.1(chr15:93451635-93885876)x3 | copy number gain | not provided [RCV001006724] | Chr15:93451635..93885876 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q26.1(chr15:93373121-93747449)x3 | copy number gain | not provided [RCV001006723] | Chr15:93373121..93747449 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1 | copy number loss | not provided [RCV001537887] | Chr15:92335751..102399741 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 | copy number loss | See cases [RCV001263026] | Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 | copy number loss | not provided [RCV001795547] | Chr15:88465861..94411846 [GRCh37] Chr15:15q25.3-26.2 |
pathogenic |
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 | copy number loss | not provided [RCV001827973] | Chr15:89520451..93926491 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_020211.3(RGMA):c.482C>T (p.Thr161Met) | single nucleotide variant | Inborn genetic diseases [RCV002753274] | Chr15:93052156 [GRCh38] Chr15:93595386 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.307G>A (p.Val103Ile) | single nucleotide variant | Inborn genetic diseases [RCV002990523] | Chr15:93052331 [GRCh38] Chr15:93595561 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.711C>G (p.Asp237Glu) | single nucleotide variant | Inborn genetic diseases [RCV002754736] | Chr15:93045640 [GRCh38] Chr15:93588870 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.15-695A>C | single nucleotide variant | Inborn genetic diseases [RCV002840559] | Chr15:93073726 [GRCh38] Chr15:93616955 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 | copy number gain | not provided [RCV002475797] | Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_020211.3(RGMA):c.23T>C (p.Leu8Pro) | single nucleotide variant | Inborn genetic diseases [RCV002882686] | Chr15:93073023 [GRCh38] Chr15:93616252 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.706A>G (p.Met236Val) | single nucleotide variant | Inborn genetic diseases [RCV002822412] | Chr15:93045645 [GRCh38] Chr15:93588875 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.15-713G>A | single nucleotide variant | Inborn genetic diseases [RCV002705202] | Chr15:93073744 [GRCh38] Chr15:93616973 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.464C>T (p.Ser155Leu) | single nucleotide variant | Inborn genetic diseases [RCV002845292] | Chr15:93052174 [GRCh38] Chr15:93595404 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.1322C>T (p.Pro441Leu) | single nucleotide variant | Inborn genetic diseases [RCV002660824] | Chr15:93045029 [GRCh38] Chr15:93588259 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_020211.3(RGMA):c.1058A>G (p.Glu353Gly) | single nucleotide variant | Inborn genetic diseases [RCV002887109] | Chr15:93045293 [GRCh38] Chr15:93588523 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.40G>A (p.Ala14Thr) | single nucleotide variant | Inborn genetic diseases [RCV002845694] | Chr15:93073006 [GRCh38] Chr15:93616235 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.1037G>T (p.Ser346Ile) | single nucleotide variant | Inborn genetic diseases [RCV002787068] | Chr15:93045314 [GRCh38] Chr15:93588544 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.748G>A (p.Gly250Ser) | single nucleotide variant | Inborn genetic diseases [RCV002788488] | Chr15:93045603 [GRCh38] Chr15:93588833 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.530G>A (p.Arg177His) | single nucleotide variant | Inborn genetic diseases [RCV002965460] | Chr15:93052108 [GRCh38] Chr15:93595338 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.316A>G (p.Ile106Val) | single nucleotide variant | Inborn genetic diseases [RCV002832352] | Chr15:93052322 [GRCh38] Chr15:93595552 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.67G>A (p.Ala23Thr) | single nucleotide variant | Inborn genetic diseases [RCV002960903] | Chr15:93072979 [GRCh38] Chr15:93616208 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.74G>C (p.Arg25Pro) | single nucleotide variant | Inborn genetic diseases [RCV002718188] | Chr15:93072972 [GRCh38] Chr15:93616201 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.1318G>A (p.Val440Ile) | single nucleotide variant | Inborn genetic diseases [RCV003196333] | Chr15:93045033 [GRCh38] Chr15:93588263 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_020211.3(RGMA):c.383C>T (p.Thr128Met) | single nucleotide variant | Inborn genetic diseases [RCV003196025] | Chr15:93052255 [GRCh38] Chr15:93595485 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 | copy number gain | not provided [RCV003222840] | Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
NM_020211.3(RGMA):c.220G>A (p.Glu74Lys) | single nucleotide variant | Inborn genetic diseases [RCV003206467] | Chr15:93052418 [GRCh38] Chr15:93595648 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.55A>G (p.Met19Val) | single nucleotide variant | Inborn genetic diseases [RCV003210156] | Chr15:93072991 [GRCh38] Chr15:93616220 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.515G>A (p.Arg172Lys) | single nucleotide variant | Inborn genetic diseases [RCV003208927] | Chr15:93052123 [GRCh38] Chr15:93595353 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_020211.3(RGMA):c.154A>C (p.Lys52Gln) | single nucleotide variant | Inborn genetic diseases [RCV003193520] | Chr15:93052484 [GRCh38] Chr15:93595714 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 | copy number gain | See cases [RCV003329502] | Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3 |
pathogenic |
NM_020211.3(RGMA):c.970C>G (p.Gln324Glu) | single nucleotide variant | Inborn genetic diseases [RCV003383482] | Chr15:93045381 [GRCh38] Chr15:93588611 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q26.1(chr15:93531889-93588745)x1 | copy number loss | not specified [RCV003987124] | Chr15:93531889..93588745 [GRCh37] Chr15:15q26.1 |
pathogenic |
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. |
A008J37 |
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G63723 |
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RGMA__6886 |
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WI-17713 |
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RH47538 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1717 | 585 | 28 | 38 | 85 | 1 | 2508 | 1690 | 2168 | 9 | 949 | 73 | 38 | 546 | 1769 | |||
Low | 616 | 1904 | 1243 | 178 | 644 | 52 | 1787 | 474 | 1522 | 269 | 444 | 1391 | 132 | 1 | 658 | 1019 | 5 | 2 |
Below cutoff | 68 | 500 | 402 | 360 | 865 | 363 | 51 | 26 | 39 | 124 | 57 | 126 | 4 | 1 |
RefSeq Transcripts | NM_001166283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001166286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001166287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001166288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001166289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_020211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC013394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC087641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074910 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK125047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK125204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL390083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015886 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC127826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC140838 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC151132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ782935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ782957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ783740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA183348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA295545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA453869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA512691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA805034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC317516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ515840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF456122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF511221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000329082 ⟹ ENSP00000330005 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000425933 ⟹ ENSP00000404442 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000542321 ⟹ ENSP00000440025 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000543599 ⟹ ENSP00000442498 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000554387 ⟹ ENSP00000451505 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000555584 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000555598 ⟹ ENSP00000451709 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000556658 ⟹ ENSP00000456290 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000556950 ⟹ ENSP00000452350 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557301 ⟹ ENSP00000452126 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557420 ⟹ ENSP00000452170 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557608 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000650169 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001166283 ⟹ NP_001159755 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001166286 ⟹ NP_001159758 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001166287 ⟹ NP_001159759 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001166288 ⟹ NP_001159760 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001166289 ⟹ NP_001159761 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_020211 ⟹ NP_064596 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001159755 | (Get FASTA) | NCBI Sequence Viewer |
NP_001159758 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001159759 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001159760 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001159761 | (Get FASTA) | NCBI Sequence Viewer | |
NP_064596 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH15886 | (Get FASTA) | NCBI Sequence Viewer |
AAI27827 | (Get FASTA) | NCBI Sequence Viewer | |
AAI40839 | (Get FASTA) | NCBI Sequence Viewer | |
AAI51133 | (Get FASTA) | NCBI Sequence Viewer | |
ACS13733 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11285 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11321 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11330 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84054 | (Get FASTA) | NCBI Sequence Viewer | |
BAG54165 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13014 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66760 | (Get FASTA) | NCBI Sequence Viewer | |
CAB98207 | (Get FASTA) | NCBI Sequence Viewer | |
CAF86163 | (Get FASTA) | NCBI Sequence Viewer | |
CAF86186 | (Get FASTA) | NCBI Sequence Viewer | |
CAF86838 | (Get FASTA) | NCBI Sequence Viewer | |
EAX02166 | (Get FASTA) | NCBI Sequence Viewer | |
EAX02167 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000330005 | ||
ENSP00000330005.7 | |||
ENSP00000404442 | |||
ENSP00000404442.2 | |||
ENSP00000440025 | |||
ENSP00000440025.2 | |||
ENSP00000442498 | |||
ENSP00000442498.1 | |||
ENSP00000451505.1 | |||
ENSP00000451709.1 | |||
ENSP00000452126 | |||
ENSP00000452126.1 | |||
ENSP00000452170.1 | |||
ENSP00000452350.1 | |||
ENSP00000456290.1 | |||
GenBank Protein | Q96B86 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001159759 ⟸ NM_001166287 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | C6G485 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001159755 ⟸ NM_001166283 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A0A0MTQ4 (UniProtKB/TrEMBL), C6G485 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001159760 ⟸ NM_001166288 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | C6G485 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001159761 ⟸ NM_001166289 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | C6G485 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001159758 ⟸ NM_001166286 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | C6G485 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_064596 ⟸ NM_020211 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | Q9H0E6 (UniProtKB/Swiss-Prot), Q8NC80 (UniProtKB/Swiss-Prot), Q0JV97 (UniProtKB/Swiss-Prot), G3V518 (UniProtKB/Swiss-Prot), F5GZU6 (UniProtKB/Swiss-Prot), F5GXQ7 (UniProtKB/Swiss-Prot), B7Z5S8 (UniProtKB/Swiss-Prot), B2RTW1 (UniProtKB/Swiss-Prot), Q9NPM3 (UniProtKB/Swiss-Prot), Q96B86 (UniProtKB/Swiss-Prot), C6G485 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000451709 ⟸ ENST00000555598 |
RefSeq Acc Id: | ENSP00000440025 ⟸ ENST00000542321 |
RefSeq Acc Id: | ENSP00000452350 ⟸ ENST00000556950 |
RefSeq Acc Id: | ENSP00000456290 ⟸ ENST00000556658 |
RefSeq Acc Id: | ENSP00000452126 ⟸ ENST00000557301 |
RefSeq Acc Id: | ENSP00000404442 ⟸ ENST00000425933 |
RefSeq Acc Id: | ENSP00000452170 ⟸ ENST00000557420 |
RefSeq Acc Id: | ENSP00000442498 ⟸ ENST00000543599 |
RefSeq Acc Id: | ENSP00000330005 ⟸ ENST00000329082 |
RefSeq Acc Id: | ENSP00000451505 ⟸ ENST00000554387 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96B86-F1-model_v2 | AlphaFold | Q96B86 | 1-450 | view protein structure |
RGD ID: | 6810809 | ||||||||
Promoter ID: | HG_ACW:28186 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | RGMA.EAPR07-UNSPLICED | ||||||||
Position: |
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RGD ID: | 7230621 | ||||||||
Promoter ID: | EPDNEW_H21056 | ||||||||
Type: | initiation region | ||||||||
Name: | RGMA_1 | ||||||||
Description: | repulsive guidance molecule family member a | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21057 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7230623 | ||||||||
Promoter ID: | EPDNEW_H21057 | ||||||||
Type: | initiation region | ||||||||
Name: | RGMA_2 | ||||||||
Description: | repulsive guidance molecule family member a | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21056 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:30308 | AgrOrtholog |
COSMIC | RGMA | COSMIC |
Ensembl Genes | ENSG00000182175 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000329082 | ENTREZGENE |
ENST00000329082.12 | UniProtKB/Swiss-Prot | |
ENST00000425933 | ENTREZGENE | |
ENST00000425933.6 | UniProtKB/Swiss-Prot | |
ENST00000542321 | ENTREZGENE | |
ENST00000542321.6 | UniProtKB/Swiss-Prot | |
ENST00000543599 | ENTREZGENE | |
ENST00000543599.5 | UniProtKB/Swiss-Prot | |
ENST00000554387.5 | UniProtKB/TrEMBL | |
ENST00000555598.1 | UniProtKB/TrEMBL | |
ENST00000556658.1 | UniProtKB/TrEMBL | |
ENST00000556950.1 | UniProtKB/TrEMBL | |
ENST00000557301 | ENTREZGENE, UniProtKB/TrEMBL | |
ENST00000557301.2 | UniProtKB/Swiss-Prot | |
ENST00000557420.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Mog1/PsbP, alpha/beta/alpha sandwich | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000182175 | GTEx |
HGNC ID | HGNC:30308 | ENTREZGENE |
Human Proteome Map | RGMA | Human Proteome Map |
InterPro | RGM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RGM_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RGM_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:56963 | UniProtKB/Swiss-Prot |
NCBI Gene | 56963 | ENTREZGENE |
OMIM | 607362 | OMIM |
PANTHER | PTHR31428 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR31428:SF4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | RGM_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RGM_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA128394693 | PharmGKB |
UniProt | A0A0A0MTQ4 | ENTREZGENE, UniProtKB/TrEMBL |
A0A0G2JL92_HUMAN | UniProtKB/TrEMBL | |
A1L187_HUMAN | UniProtKB/TrEMBL | |
B2RTW1 | ENTREZGENE | |
B7Z5S8 | ENTREZGENE | |
C6G485 | ENTREZGENE, UniProtKB/TrEMBL | |
F5GXQ7 | ENTREZGENE | |
F5GZU6 | ENTREZGENE | |
F5H7G2_HUMAN | UniProtKB/TrEMBL | |
G3V3Z3_HUMAN | UniProtKB/TrEMBL | |
G3V4C2_HUMAN | UniProtKB/TrEMBL | |
G3V518 | ENTREZGENE | |
G3V545_HUMAN | UniProtKB/TrEMBL | |
Q0JV97 | ENTREZGENE | |
Q8NC80 | ENTREZGENE | |
Q96B86 | ENTREZGENE | |
Q9H0E6 | ENTREZGENE | |
Q9NPM3 | ENTREZGENE | |
RGMA_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B2RTW1 | UniProtKB/Swiss-Prot |
B7Z5S8 | UniProtKB/Swiss-Prot | |
F5GXQ7 | UniProtKB/Swiss-Prot | |
F5GZU6 | UniProtKB/Swiss-Prot | |
G3V518 | UniProtKB/Swiss-Prot | |
Q0JV97 | UniProtKB/Swiss-Prot | |
Q8NC80 | UniProtKB/Swiss-Prot | |
Q9H0E6 | UniProtKB/Swiss-Prot | |
Q9NPM3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2018-01-16 | RGMA | repulsive guidance molecule BMP co-receptor a | repulsive guidance molecule family member a | Symbol and/or name change | 5135510 | APPROVED | |
2013-11-12 | RGMA | repulsive guidance molecule family member a | RGM domain family, member A | Symbol and/or name change | 5135510 | APPROVED |