![]()
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TMEM199 | Human | congenital disorder of glycosylation type IIp | | IAGP | | 7240710 | | OMIM | | |
|
![]()
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TMEM199 | Human | congenital disorder of glycosylation type IIp | | IAGP | | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
|
# | 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:8125298 | PMID:12477932 | PMID:15489334 | PMID:21873635 | PMID:24623722 | PMID:25080503 | PMID:25416956 | PMID:25468996 | PMID:26186194 | PMID:26496610 | PMID:26638075 | PMID:26833330 |
PMID:28296633 | PMID:28298427 | PMID:28514442 | PMID:28692057 | PMID:29117863 | PMID:29395067 | PMID:29509190 | PMID:29568061 | PMID:30194290 | PMID:30639242 | PMID:31056421 | PMID:31091453 |
PMID:31177093 | PMID:31732153 | PMID:31871319 | PMID:32296183 | PMID:32393512 | PMID:32788342 | PMID:32877691 | PMID:33263384 | PMID:33845483 | PMID:33957083 | PMID:33961781 | PMID:34079125 |
PMID:34186245 | PMID:34349018 | PMID:34373451 | PMID:34626841 | PMID:34709727 | PMID:35271311 | PMID:36610398 | PMID:36706865 | PMID:37223481 | PMID:37774976 | PMID:37931956 | PMID:38117590 |
TMEM199 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem199 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem199 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem199 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM199 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM199 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem199 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM199 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TMEM199 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tmem199 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in TMEM199
72 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 | copy number gain | See cases [RCV000136494] | Chr17:28283125..28904397 [GRCh38] Chr17:26610151..27231415 [GRCh37] Chr17:23634278..24255541 [NCBI36] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.40G>C (p.Ala14Pro) | single nucleotide variant | TMEM199-CDG [RCV000208624] | Chr17:28357710 [GRCh38] Chr17:26684733 [GRCh37] Chr17:17q11.2 |
pathogenic |
NM_152464.3(TMEM199):c.376-1G>A | single nucleotide variant | TMEM199-CDG [RCV000208655] | Chr17:28360528 [GRCh38] Chr17:26687551 [GRCh37] Chr17:17q11.2 |
pathogenic|likely benign |
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu) | single nucleotide variant | Congenital disorders of glycosylation type II [RCV000210814]|TMEM199-CDG [RCV000208686]|not provided [RCV001268228] | Chr17:28357690 [GRCh38] Chr17:26684713 [GRCh37] Chr17:17q11.2 |
pathogenic|likely pathogenic |
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro) | single nucleotide variant | Congenital disorders of glycosylation type II [RCV000210790]|TMEM199-CDG [RCV000208697]|TMEM199-related disorder [RCV003407721]|not provided [RCV002517364] | Chr17:28357762 [GRCh38] Chr17:26684785 [GRCh37] Chr17:17q11.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 | copy number gain | not provided [RCV000762776] | Chr17:25403446..31685464 [GRCh37] Chr17:17q11.1-11.2 |
likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 | copy number loss | Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] | Chr17:25248166..30645676 [GRCh37] Chr17:17q11.1-11.2 |
drug response |
NM_152464.3(TMEM199):c.256T>C (p.Tyr86His) | single nucleotide variant | not provided [RCV000514416] | Chr17:28358960 [GRCh38] Chr17:26685983 [GRCh37] Chr17:17q11.2 |
benign|likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 | copy number gain | not provided [RCV000739439] | Chr17:21279289..27474974 [GRCh37] Chr17:17p11.2-q11.2 |
likely pathogenic |
GRCh37/hg19 17q11.2(chr17:26619789-26723666)x1 | copy number loss | not provided [RCV000751972] | Chr17:26619789..26723666 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.36G>A (p.Val12=) | single nucleotide variant | TMEM199-related disorder [RCV003895643]|not provided [RCV000928280] | Chr17:28357706 [GRCh38] Chr17:26684729 [GRCh37] Chr17:17q11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_152464.3(TMEM199):c.472G>A (p.Val158Ile) | single nucleotide variant | TMEM199-related disorder [RCV004731068]|not provided [RCV000965374] | Chr17:28360788 [GRCh38] Chr17:26687811 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.156A>G (p.Gln52=) | single nucleotide variant | TMEM199-CDG [RCV002502951]|not provided [RCV000953725] | Chr17:28357826 [GRCh38] Chr17:26684849 [GRCh37] Chr17:17q11.2 |
benign|likely benign |
NM_152464.3(TMEM199):c.496C>G (p.Leu166Val) | single nucleotide variant | not provided [RCV000831390] | Chr17:28360812 [GRCh38] Chr17:26687835 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.414G>A (p.Lys138=) | single nucleotide variant | not provided [RCV000937883] | Chr17:28360567 [GRCh38] Chr17:26687590 [GRCh37] Chr17:17q11.2 |
likely benign |
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 | copy number gain | not provided [RCV000846852] | Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2 |
pathogenic |
NC_000017.11:g.28357366dup | duplication | not provided [RCV001655030] | Chr17:28357364..28357365 [GRCh38] Chr17:26684392 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.532-114C>T | single nucleotide variant | not provided [RCV001560310] | Chr17:28361043 [GRCh38] Chr17:26688065 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.286-120C>T | single nucleotide variant | not provided [RCV001684594] | Chr17:28359195 [GRCh38] Chr17:26686218 [GRCh37] Chr17:17q11.2 |
benign |
NC_000017.11:g.28357368T>G | single nucleotide variant | not provided [RCV001639505] | Chr17:28357368 [GRCh38] Chr17:26684394 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.375+233dup | duplication | not provided [RCV001658502] | Chr17:28359636..28359637 [GRCh38] Chr17:26686659..26686660 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.138T>C (p.Asp46=) | single nucleotide variant | not provided [RCV000917061] | Chr17:28357808 [GRCh38] Chr17:26684831 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.450C>T (p.Ile150=) | single nucleotide variant | not provided [RCV000885316] | Chr17:28360766 [GRCh38] Chr17:26687789 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.211+10A>C | single nucleotide variant | not provided [RCV000929506] | Chr17:28357891 [GRCh38] Chr17:26684914 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.375+8C>T | single nucleotide variant | not provided [RCV000913669] | Chr17:28359412 [GRCh38] Chr17:26686435 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.211+1G>A | single nucleotide variant | not provided [RCV002967496] | Chr17:28357882 [GRCh38] Chr17:26684905 [GRCh37] Chr17:17q11.2 |
likely pathogenic |
NC_000017.11:g.28357424= | single nucleotide variant | not provided [RCV001682198] | Chr17:28357424 [GRCh38] Chr17:26684449 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.531+32dup | duplication | not provided [RCV001689330] | Chr17:28360875..28360876 [GRCh38] Chr17:26687898..26687899 [GRCh37] Chr17:17q11.2 |
benign |
NC_000017.11:g.28357259del | deletion | not provided [RCV001635887] | Chr17:28357258 [GRCh38] Chr17:26684284 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.*207T>C | single nucleotide variant | not provided [RCV001590340] | Chr17:28361459 [GRCh38] Chr17:26688481 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.364G>A (p.Val122Ile) | single nucleotide variant | not provided [RCV001613822] | Chr17:28359393 [GRCh38] Chr17:26686416 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.376-66dup | duplication | not provided [RCV001696423] | Chr17:28360461..28360462 [GRCh38] Chr17:26687484..26687485 [GRCh37] Chr17:17q11.2 |
benign |
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 | copy number gain | not provided [RCV001006886] | Chr17:25274363..28450707 [GRCh37] Chr17:17q11.1-11.2 |
pathogenic |
NM_152464.3(TMEM199):c.375+18A>G | single nucleotide variant | not provided [RCV001538743] | Chr17:28359422 [GRCh38] Chr17:28359422..28359423 [GRCh38] Chr17:26686445 [GRCh37] Chr17:26686445..26686446 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.610G>T (p.Glu204Ter) | single nucleotide variant | TMEM199-CDG [RCV001337013] | Chr17:28361235 [GRCh38] Chr17:26688257 [GRCh37] Chr17:17q11.2 |
pathogenic |
NM_152464.3(TMEM199):c.28C>T (p.Arg10Ter) | single nucleotide variant | TMEM199-CDG [RCV001337012] | Chr17:28357698 [GRCh38] Chr17:26684721 [GRCh37] Chr17:17q11.2 |
pathogenic |
NC_000017.11:g.28357506_28357507dup | duplication | not provided [RCV001698908] | Chr17:28357504..28357505 [GRCh38] Chr17:26684529..26684530 [GRCh37] Chr17:17q11.2 |
benign |
NC_000017.11:g.28357342G>A | single nucleotide variant | not provided [RCV001572469] | Chr17:28357342 [GRCh38] Chr17:26684368 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.375+125G>A | single nucleotide variant | not provided [RCV001786623] | Chr17:28359529 [GRCh38] Chr17:26686552 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.19G>A (p.Ala7Thr) | single nucleotide variant | not provided [RCV001765717] | Chr17:28357689 [GRCh38] Chr17:26684712 [GRCh37] Chr17:17q11.2 |
uncertain significance |
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) | copy number gain | not specified [RCV002052591] | Chr17:21690653..28281232 [GRCh37] Chr17:17p11.2-q11.2 |
pathogenic |
NM_152464.3(TMEM199):c.110C>T (p.Ala37Val) | single nucleotide variant | not provided [RCV002041430] | Chr17:28357780 [GRCh38] Chr17:26684803 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.342A>C (p.Glu114Asp) | single nucleotide variant | not provided [RCV001908145] | Chr17:28359371 [GRCh38] Chr17:26686394 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.376G>C (p.Asp126His) | single nucleotide variant | Inborn genetic diseases [RCV002562859]|not provided [RCV001960472] | Chr17:28360529 [GRCh38] Chr17:26687552 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.74G>T (p.Arg25Leu) | single nucleotide variant | not provided [RCV002027276] | Chr17:28357744 [GRCh38] Chr17:26684767 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.284G>A (p.Arg95Gln) | single nucleotide variant | not provided [RCV002017770] | Chr17:28358988 [GRCh38] Chr17:26686011 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.376-19T>A | single nucleotide variant | not provided [RCV002149336] | Chr17:28360510 [GRCh38] Chr17:26687533 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.540A>G (p.Leu180=) | single nucleotide variant | not provided [RCV002211391] | Chr17:28361165 [GRCh38] Chr17:26688187 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.177C>T (p.Leu59=) | single nucleotide variant | not provided [RCV002131215] | Chr17:28357847 [GRCh38] Chr17:26684870 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.44T>C (p.Leu15Ser) | single nucleotide variant | not provided [RCV002135629] | Chr17:28357714 [GRCh38] Chr17:26684737 [GRCh37] Chr17:17q11.2 |
benign |
NC_000017.10:g.(?_26684694)_(27581367_?)dup | duplication | not provided [RCV003116316] | Chr17:26684694..27581367 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NC_000017.10:g.(?_26684694)_(29701173_?)dup | duplication | not provided [RCV003123018] | Chr17:26684694..29701173 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.586G>A (p.Val196Ile) | single nucleotide variant | Inborn genetic diseases [RCV003282849] | Chr17:28361211 [GRCh38] Chr17:26688233 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.527C>T (p.Ala176Val) | single nucleotide variant | not provided [RCV002771369] | Chr17:28360843 [GRCh38] Chr17:26687866 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.335A>G (p.Asn112Ser) | single nucleotide variant | Inborn genetic diseases [RCV002776835] | Chr17:28359364 [GRCh38] Chr17:26686387 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.376-17C>T | single nucleotide variant | not provided [RCV002690108] | Chr17:28360512 [GRCh38] Chr17:26687535 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.569G>A (p.Gly190Asp) | single nucleotide variant | not provided [RCV002882268] | Chr17:28361194 [GRCh38] Chr17:26688216 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.577G>A (p.Glu193Lys) | single nucleotide variant | Inborn genetic diseases [RCV002733957] | Chr17:28361202 [GRCh38] Chr17:26688224 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.143C>G (p.Ser48Cys) | single nucleotide variant | Inborn genetic diseases [RCV002860140] | Chr17:28357813 [GRCh38] Chr17:26684836 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.428T>C (p.Leu143Ser) | single nucleotide variant | Inborn genetic diseases [RCV002845525] | Chr17:28360744 [GRCh38] Chr17:26687767 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.592G>T (p.Val198Leu) | single nucleotide variant | not provided [RCV002569915] | Chr17:28361217 [GRCh38] Chr17:26688239 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.20C>T (p.Ala7Val) | single nucleotide variant | not provided [RCV002912717] | Chr17:28357690 [GRCh38] Chr17:26684713 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.74G>A (p.Arg25Gln) | single nucleotide variant | not provided [RCV002619946] | Chr17:28357744 [GRCh38] Chr17:26684767 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.467C>T (p.Thr156Met) | single nucleotide variant | Inborn genetic diseases [RCV002925485] | Chr17:28360783 [GRCh38] Chr17:26687806 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.542C>G (p.Ala181Gly) | single nucleotide variant | Inborn genetic diseases [RCV002799205] | Chr17:28361167 [GRCh38] Chr17:26688189 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.532C>T (p.Arg178Trp) | single nucleotide variant | Inborn genetic diseases [RCV002923104]|not provided [RCV002941870] | Chr17:28361157 [GRCh38] Chr17:26688179 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.350G>A (p.Arg117Gln) | single nucleotide variant | not provided [RCV002932678] | Chr17:28359379 [GRCh38] Chr17:26686402 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.547T>C (p.Leu183=) | single nucleotide variant | not provided [RCV002800926] | Chr17:28361172 [GRCh38] Chr17:26688194 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.215C>T (p.Ser72Phe) | single nucleotide variant | Inborn genetic diseases [RCV002850157] | Chr17:28358919 [GRCh38] Chr17:26685942 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.16C>T (p.Leu6Phe) | single nucleotide variant | not provided [RCV002663198] | Chr17:28357686 [GRCh38] Chr17:26684709 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.419-11C>T | single nucleotide variant | not provided [RCV002597869] | Chr17:28360724 [GRCh38] Chr17:26687747 [GRCh37] Chr17:17q11.2 |
benign |
NM_152464.3(TMEM199):c.595C>G (p.Arg199Gly) | single nucleotide variant | Inborn genetic diseases [RCV002900367]|not provided [RCV002900366] | Chr17:28361220 [GRCh38] Chr17:26688242 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.455A>G (p.Asn152Ser) | single nucleotide variant | Inborn genetic diseases [RCV002605462]|not provided [RCV002631446] | Chr17:28360771 [GRCh38] Chr17:26687794 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.13_14del (p.Leu5fs) | deletion | not provided [RCV002654722] | Chr17:28357682..28357683 [GRCh38] Chr17:26684705..26684706 [GRCh37] Chr17:17q11.2 |
pathogenic |
NM_152464.3(TMEM199):c.419-6C>G | single nucleotide variant | not provided [RCV002633374] | Chr17:28360729 [GRCh38] Chr17:26687752 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.16C>G (p.Leu6Val) | single nucleotide variant | Inborn genetic diseases [RCV003181085] | Chr17:28357686 [GRCh38] Chr17:26684709 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.151C>T (p.Pro51Ser) | single nucleotide variant | Inborn genetic diseases [RCV003191301] | Chr17:28357821 [GRCh38] Chr17:26684844 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.268G>A (p.Val90Ile) | single nucleotide variant | Inborn genetic diseases [RCV003210767] | Chr17:28358972 [GRCh38] Chr17:26685995 [GRCh37] Chr17:17q11.2 |
uncertain significance |
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 | copy number gain | Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] | Chr17:25263507..27829791 [GRCh37] Chr17:17q11.1-11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.596G>A (p.Arg199Gln) | single nucleotide variant | not provided [RCV003726824] | Chr17:28361221 [GRCh38] Chr17:26688243 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.211+16C>T | single nucleotide variant | not provided [RCV003832094] | Chr17:28357897 [GRCh38] Chr17:26684920 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.230A>G (p.His77Arg) | single nucleotide variant | not provided [RCV003857454] | Chr17:28358934 [GRCh38] Chr17:26685957 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.376-10T>C | single nucleotide variant | not provided [RCV003554867] | Chr17:28360519 [GRCh38] Chr17:26687542 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.-7del | deletion | TMEM199-related disorder [RCV003937401] | Chr17:28357663 [GRCh38] Chr17:26684686 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.211+10A>G | single nucleotide variant | TMEM199-related disorder [RCV003899669] | Chr17:28357891 [GRCh38] Chr17:26684914 [GRCh37] Chr17:17q11.2 |
likely benign |
NM_152464.3(TMEM199):c.175C>T (p.Leu59Phe) | single nucleotide variant | Inborn genetic diseases [RCV004467442] | Chr17:28357845 [GRCh38] Chr17:26684868 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.349C>T (p.Arg117Trp) | single nucleotide variant | Inborn genetic diseases [RCV004467443] | Chr17:28359378 [GRCh38] Chr17:26686401 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.526G>T (p.Ala176Ser) | single nucleotide variant | Inborn genetic diseases [RCV004467445] | Chr17:28360842 [GRCh38] Chr17:26687865 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.530C>T (p.Ser177Leu) | single nucleotide variant | Inborn genetic diseases [RCV004467446] | Chr17:28360846 [GRCh38] Chr17:26687869 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.100C>T (p.Leu34Phe) | single nucleotide variant | Inborn genetic diseases [RCV004467441] | Chr17:28357770 [GRCh38] Chr17:26684793 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.400A>G (p.Ser134Gly) | single nucleotide variant | Inborn genetic diseases [RCV004686914] | Chr17:28360553 [GRCh38] Chr17:26687576 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.122A>C (p.Lys41Thr) | single nucleotide variant | Inborn genetic diseases [RCV004679590] | Chr17:28357792 [GRCh38] Chr17:26684815 [GRCh37] Chr17:17q11.2 |
uncertain significance |
NM_152464.3(TMEM199):c.385C>T (p.His129Tyr) | single nucleotide variant | Inborn genetic diseases [RCV004679591] | Chr17:28360538 [GRCh38] Chr17:26687561 [GRCh37] Chr17:17q11.2 |
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 |
D17S1555 |
|
|||||||||||||||||||||||||||||||||||
Cda01c02 |
|
|||||||||||||||||||||||||||||||||||
SHGC-132409 |
|
|||||||||||||||||||||||||||||||||||
SHGC-30273 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_046803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_152464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA279827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC002094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK223584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY074907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC033113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ891740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC327155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF573651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000292114 ⟹ ENSP00000292114 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000395404 ⟹ ENSP00000465232 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000483505 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000509083 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000555264 ⟹ ENSP00000462356 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000579762 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000580868 ⟹ ENSP00000462195 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000581386 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000585027 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_152464 ⟹ NP_689677 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_689677 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH33113 | (Get FASTA) | NCBI Sequence Viewer |
AAO12163 | (Get FASTA) | NCBI Sequence Viewer | |
BAD97304 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84164 | (Get FASTA) | NCBI Sequence Viewer | |
EAW51079 | (Get FASTA) | NCBI Sequence Viewer | |
EAW51080 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000292114 | ||
ENSP00000292114.3 | |||
ENSP00000462195.1 | |||
ENSP00000462356.1 | |||
ENSP00000465232.1 | |||
GenBank Protein | Q8N511 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_689677 ⟸ NM_152464 |
- UniProtKB: | Q8N511 (UniProtKB/Swiss-Prot), A8K610 (UniProtKB/TrEMBL), Q53EQ5 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000462195 ⟸ ENST00000580868 |
Ensembl Acc Id: | ENSP00000462356 ⟸ ENST00000555264 |
Ensembl Acc Id: | ENSP00000292114 ⟸ ENST00000292114 |
Ensembl Acc Id: | ENSP00000465232 ⟸ ENST00000395404 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8N511-F1-model_v2 | AlphaFold | Q8N511 | 1-208 | view protein structure |
RGD ID: | 6794452 | ||||||||
Promoter ID: | HG_KWN:25538 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | ENST00000003607, ENST00000395404, NM_015584, OTTHUMT00000255676, OTTHUMT00000255678, UC002HAZ.1 | ||||||||
Position: |
|
RGD ID: | 7234349 | ||||||||
Promoter ID: | EPDNEW_H22920 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM199_1 | ||||||||
Description: | transmembrane protein 199 | ||||||||
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:18085 | AgrOrtholog |
COSMIC | TMEM199 | COSMIC |
Ensembl Genes | ENSG00000244045 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000292114 | ENTREZGENE |
ENST00000292114.8 | UniProtKB/Swiss-Prot | |
ENST00000395404.7 | UniProtKB/TrEMBL | |
ENST00000555264.6 | UniProtKB/TrEMBL | |
ENST00000580868.5 | UniProtKB/TrEMBL | |
GTEx | ENSG00000244045 | GTEx |
HGNC ID | HGNC:18085 | ENTREZGENE |
Human Proteome Map | TMEM199 | Human Proteome Map |
InterPro | ATPase_Vma12 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:147007 | UniProtKB/Swiss-Prot |
NCBI Gene | TMEM199 | ENTREZGENE |
OMIM | 616815 | OMIM |
PANTHER | PTHR31394 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TRANSMEMBRANE PROTEIN 199 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Vma12 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162406348 | PharmGKB |
UniProt | A8K610 | ENTREZGENE, UniProtKB/TrEMBL |
J3KRW7_HUMAN | UniProtKB/TrEMBL | |
J3KS81_HUMAN | UniProtKB/TrEMBL | |
K7EJL8_HUMAN | UniProtKB/TrEMBL | |
Q53EQ5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8N511 | ENTREZGENE, UniProtKB/Swiss-Prot |