Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CCDC154 | Human | autosomal recessive osteopetrosis 1 | | ISS | Ccdc154 (Mus musculus) | 13592920 | OMIM:259700 | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CCDC154 | Human | autosomal recessive osteopetrosis 1 | | ISS | Ccdc154 (Mus musculus) | 13592920 | OMIM:259700 | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:21873635 | PMID:22895184 | PMID:27173435 | PMID:29509190 | PMID:31586073 | PMID:33614666 | PMID:37863352 |
CCDC154 (Homo sapiens - human) |
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Ccdc154 (Mus musculus - house mouse) |
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Ccdc154 (Rattus norvegicus - Norway rat) |
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Ccdc154 (Chinchilla lanigera - long-tailed chinchilla) |
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CCDC154 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CCDC154 (Canis lupus familiaris - dog) |
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Ccdc154 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CCDC154 (Sus scrofa - pig) |
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CCDC154 (Chlorocebus sabaeus - green monkey) |
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Ccdc154 (Heterocephalus glaber - naked mole-rat) |
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Variants in CCDC154
70 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 | copy number gain | See cases [RCV000052367] | Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 | copy number gain | See cases [RCV000052368] | Chr16:29941..2560460 [GRCh38] Chr16:79941..2610461 [GRCh37] Chr16:19941..2550462 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 | copy number gain | See cases [RCV000052369] | Chr16:46566..1800860 [GRCh38] Chr16:96566..1850861 [GRCh37] Chr16:36566..1790862 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 | copy number gain | See cases [RCV000052370] | Chr16:46766..3214623 [GRCh38] Chr16:96766..3264623 [GRCh37] Chr16:36766..3204624 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 | copy number gain | See cases [RCV000052373] | Chr16:1221651..2233773 [GRCh38] Chr16:1271651..2283774 [GRCh37] Chr16:1211652..2223775 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 | copy number gain | See cases [RCV000052375] | Chr16:1278821..1919148 [GRCh38] Chr16:1328822..1969149 [GRCh37] Chr16:1268823..1909150 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 | copy number loss | See cases [RCV000053251] | Chr16:23141..1773349 [GRCh38] Chr16:73141..1823350 [GRCh37] Chr16:13141..1763351 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 | copy number loss | See cases [RCV000053252] | Chr16:23141..1712523 [GRCh38] Chr16:73141..1762524 [GRCh37] Chr16:13141..1702525 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 | copy number loss | See cases [RCV000053253] | Chr16:46766..1997582 [GRCh38] Chr16:96766..2047583 [GRCh37] Chr16:36766..1987584 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 | copy number loss | See cases [RCV000053267] | Chr16:105429..1499893 [GRCh38] Chr16:155427..1549894 [GRCh37] Chr16:95427..1489895 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 | copy number gain | See cases [RCV000133780] | Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 | copy number loss | See cases [RCV000134917] | Chr16:46766..1544014 [GRCh38] Chr16:96766..1594015 [GRCh37] Chr16:36766..1534016 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1 | copy number loss | See cases [RCV000136187] | Chr16:1257541..1436509 [GRCh38] Chr16:1307542..1486510 [GRCh37] Chr16:1247543..1426511 [NCBI36] Chr16:16p13.3 |
benign |
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 | copy number gain | See cases [RCV000136687] | Chr16:46766..4247185 [GRCh38] Chr16:96766..4297186 [GRCh37] Chr16:36766..4237187 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 | copy number loss | See cases [RCV000137826] | Chr16:46722..1867327 [GRCh38] Chr16:96722..1917328 [GRCh37] Chr16:36722..1857329 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 | copy number gain | See cases [RCV000139166] | Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12 |
pathogenic |
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 | copy number gain | See cases [RCV000143710] | Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 | copy number gain | See cases [RCV000203445] | Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207053] | Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207326] | Chr16:1274615..19073133 [GRCh37] Chr16:16p13.3-12.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 | copy number loss | See cases [RCV000239415] | Chr16:88165..1715454 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 | copy number loss | See cases [RCV000240294] | Chr16:72769..1511716 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) | copy number gain | See cases [RCV000446555] | Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 | copy number gain | See cases [RCV000445663] | Chr16:97133..5122974 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 | copy number gain | See cases [RCV000510815] | Chr16:643377..3125125 [GRCh37] Chr16:16p13.3 |
uncertain significance |
maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
NM_001143980.3(CCDC154):c.1458C>A (p.Asp486Glu) | single nucleotide variant | not specified [RCV004322474] | Chr16:1436474 [GRCh38] Chr16:1486475 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 | copy number gain | See cases [RCV000512194] | Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_001143980.3(CCDC154):c.328C>T (p.Arg110Cys) | single nucleotide variant | not specified [RCV004302214] | Chr16:1443592 [GRCh38] Chr16:1493593 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 | copy number gain | See cases [RCV000510698] | Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 | copy number gain | See cases [RCV000511360] | Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 | copy number loss | not provided [RCV000683741] | Chr16:85880..1875694 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 | copy number gain | not provided [RCV000683742] | Chr16:85880..3216551 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 | copy number loss | not provided [RCV000683740] | Chr16:85880..1498731 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 | copy number gain | not provided [RCV000683743] | Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1383327-1497403)x3 | copy number gain | not provided [RCV000751508] | Chr16:1383327..1497403 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1397815-1499377)x3 | copy number gain | not provided [RCV000751509] | Chr16:1397815..1499377 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 | copy number loss | not provided [RCV000751445] | Chr16:61451..1593645 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001143980.3(CCDC154):c.377G>A (p.Arg126Gln) | single nucleotide variant | not specified [RCV004294028] | Chr16:1443543 [GRCh38] Chr16:1493544 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1157G>A (p.Arg386Gln) | single nucleotide variant | not specified [RCV004304135] | Chr16:1437950 [GRCh38] Chr16:1487951 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:109978-4316797) | copy number gain | Chromosome 16p13.3 duplication syndrome [RCV000767731] | Chr16:109978..4316797 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_1203718)_(2185710_?)del | deletion | Tuberous sclerosis 2 [RCV001033886] | Chr16:1203718..2185710 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_624055)_(2115656_?)del | deletion | Tuberous sclerosis 2 [RCV000811345] | Chr16:624055..2115656 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 | copy number loss | not provided [RCV000849039] | Chr16:85880..2053328 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_624055)_(2148005_?)del | deletion | Tuberous sclerosis 2 [RCV001033183] | Chr16:624055..2148005 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_624055)_(2550979_?)dup | duplication | Idiopathic generalized epilepsy [RCV001033790] | Chr16:624055..2550979 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 | copy number gain | not provided [RCV001537890] | Chr16:84485..5251013 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3 | copy number gain | not provided [RCV001259760] | Chr16:1233996..1509217 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 | copy number gain | not provided [RCV001259749] | Chr16:85880..5249457 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_624055)_(2153916_?)dup | duplication | Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] | Chr16:624055..2153916 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.713G>A (p.Arg238His) | single nucleotide variant | not specified [RCV004307664] | Chr16:1439089 [GRCh38] Chr16:1489090 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(5971108_?)dup | duplication | Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] | Chr16:256302..5971108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(4852572_?)dup | duplication | Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] | Chr16:256302..4852572 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(1843653_?)del | deletion | Idiopathic generalized epilepsy [RCV003109815] | Chr16:256302..1843653 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(1657267_?)del | deletion | Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] | Chr16:256302..1657267 [GRCh37] Chr16:16p13.3 |
pathogenic|no classifications from unflagged records |
NC_000016.9:g.(?_256302)_(1918176_?)del | deletion | not provided [RCV003119703] | Chr16:256302..1918176 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 | copy number gain | See cases [RCV002292215] | Chr16:111043..6627459 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001143980.3(CCDC154):c.707G>A (p.Ser236Asn) | single nucleotide variant | not specified [RCV004308766] | Chr16:1439095 [GRCh38] Chr16:1489096 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 | copy number gain | not provided [RCV002473769] | Chr16:1129080..2021055 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1936G>A (p.Val646Ile) | single nucleotide variant | not specified [RCV004238268] | Chr16:1434476 [GRCh38] Chr16:1484477 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.832G>A (p.Glu278Lys) | single nucleotide variant | not specified [RCV004245643] | Chr16:1438889 [GRCh38] Chr16:1488890 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.941A>T (p.Asp314Val) | single nucleotide variant | not specified [RCV004096370] | Chr16:1438703 [GRCh38] Chr16:1488704 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1826C>T (p.Ala609Val) | single nucleotide variant | not specified [RCV004178424] | Chr16:1434719 [GRCh38] Chr16:1484720 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.293G>A (p.Arg98Gln) | single nucleotide variant | not specified [RCV004132509] | Chr16:1443627 [GRCh38] Chr16:1493628 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1693C>T (p.Arg565Cys) | single nucleotide variant | not specified [RCV004224589] | Chr16:1434852 [GRCh38] Chr16:1484853 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.532G>A (p.Glu178Lys) | single nucleotide variant | not specified [RCV004176504] | Chr16:1442899 [GRCh38] Chr16:1492900 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1810T>G (p.Phe604Val) | single nucleotide variant | not specified [RCV004157163] | Chr16:1434735 [GRCh38] Chr16:1484736 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.275G>A (p.Arg92His) | single nucleotide variant | not specified [RCV004124925] | Chr16:1443645 [GRCh38] Chr16:1493646 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1114G>A (p.Glu372Lys) | single nucleotide variant | not specified [RCV004164429] | Chr16:1438088 [GRCh38] Chr16:1488089 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.374C>T (p.Ala125Val) | single nucleotide variant | not specified [RCV004085520] | Chr16:1443546 [GRCh38] Chr16:1493547 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1201G>A (p.Gly401Arg) | single nucleotide variant | not specified [RCV004202331] | Chr16:1437906 [GRCh38] Chr16:1487907 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.323G>A (p.Arg108Gln) | single nucleotide variant | not specified [RCV004159388] | Chr16:1443597 [GRCh38] Chr16:1493598 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1666C>T (p.Leu556Phe) | single nucleotide variant | not specified [RCV004231183] | Chr16:1435115 [GRCh38] Chr16:1485116 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1802C>T (p.Pro601Leu) | single nucleotide variant | not specified [RCV004069836] | Chr16:1434743 [GRCh38] Chr16:1484744 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.595C>T (p.Arg199Trp) | single nucleotide variant | not specified [RCV004094650] | Chr16:1442486 [GRCh38] Chr16:1492487 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1756C>T (p.Arg586Trp) | single nucleotide variant | not specified [RCV004201389] | Chr16:1434789 [GRCh38] Chr16:1484790 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.827G>C (p.Arg276Pro) | single nucleotide variant | not specified [RCV004109211] | Chr16:1438894 [GRCh38] Chr16:1488895 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.691C>T (p.Leu231Phe) | single nucleotide variant | not specified [RCV004196501] | Chr16:1439111 [GRCh38] Chr16:1489112 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1348C>T (p.Arg450Trp) | single nucleotide variant | not specified [RCV004186359] | Chr16:1436754 [GRCh38] Chr16:1486755 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.184G>A (p.Glu62Lys) | single nucleotide variant | not specified [RCV004080219] | Chr16:1443836 [GRCh38] Chr16:1493837 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.397G>A (p.Glu133Lys) | single nucleotide variant | not specified [RCV004232359] | Chr16:1443523 [GRCh38] Chr16:1493524 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1124G>A (p.Arg375Gln) | single nucleotide variant | not specified [RCV004075541] | Chr16:1438078 [GRCh38] Chr16:1488079 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.376C>T (p.Arg126Trp) | single nucleotide variant | not specified [RCV004193292] | Chr16:1443544 [GRCh38] Chr16:1493545 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.407C>T (p.Ala136Val) | single nucleotide variant | not specified [RCV004199226] | Chr16:1443513 [GRCh38] Chr16:1493514 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1540G>A (p.Val514Met) | single nucleotide variant | not specified [RCV004176069] | Chr16:1436034 [GRCh38] Chr16:1486035 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.791C>T (p.Ser264Leu) | single nucleotide variant | not specified [RCV004102724] | Chr16:1438930 [GRCh38] Chr16:1488931 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.610G>A (p.Gly204Ser) | single nucleotide variant | not specified [RCV004090597] | Chr16:1442471 [GRCh38] Chr16:1492472 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1030G>A (p.Ala344Thr) | single nucleotide variant | not specified [RCV004187737] | Chr16:1438172 [GRCh38] Chr16:1488173 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.830G>T (p.Gly277Val) | single nucleotide variant | not specified [RCV004091741] | Chr16:1438891 [GRCh38] Chr16:1488892 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.283C>T (p.Arg95Cys) | single nucleotide variant | not specified [RCV004096380] | Chr16:1443637 [GRCh38] Chr16:1493638 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.304C>T (p.Arg102Trp) | single nucleotide variant | not specified [RCV004083609] | Chr16:1443616 [GRCh38] Chr16:1493617 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.161C>T (p.Pro54Leu) | single nucleotide variant | not specified [RCV004089248] | Chr16:1443859 [GRCh38] Chr16:1493860 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1588C>G (p.Gln530Glu) | single nucleotide variant | not specified [RCV004274046] | Chr16:1435986 [GRCh38] Chr16:1485987 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.4T>G (p.Ser2Ala) | single nucleotide variant | not specified [RCV004256231] | Chr16:1444319 [GRCh38] Chr16:1494320 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 | copy number loss | not provided [RCV003222891] | Chr16:811896..2130379 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001143980.3(CCDC154):c.1151T>G (p.Leu384Arg) | single nucleotide variant | not specified [RCV004259159] | Chr16:1438051 [GRCh38] Chr16:1488052 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1072G>A (p.Ala358Thr) | single nucleotide variant | not specified [RCV004260812] | Chr16:1438130 [GRCh38] Chr16:1488131 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1898C>G (p.Ser633Cys) | single nucleotide variant | not specified [RCV004253195] | Chr16:1434514 [GRCh38] Chr16:1484515 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1639G>A (p.Val547Ile) | single nucleotide variant | not specified [RCV004331186] | Chr16:1435142 [GRCh38] Chr16:1485143 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.997C>T (p.Arg333Cys) | single nucleotide variant | not specified [RCV004346307] | Chr16:1438647 [GRCh38] Chr16:1488648 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 | copy number loss | not provided [RCV003483253] | Chr16:85881..1657611 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 | copy number gain | not provided [RCV003485080] | Chr16:1054247..2592737 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
NM_001143980.3(CCDC154):c.1878-1G>A | single nucleotide variant | not provided [RCV003395174] | Chr16:1434535 [GRCh38] Chr16:1484536 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1190C>T (p.Ala397Val) | single nucleotide variant | not specified [RCV004434907] | Chr16:1437917 [GRCh38] Chr16:1487918 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.13G>T (p.Ala5Ser) | single nucleotide variant | not specified [RCV004434910] | Chr16:1444007 [GRCh38] Chr16:1494008 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1805G>A (p.Arg602Gln) | single nucleotide variant | not specified [RCV004434913] | Chr16:1434740 [GRCh38] Chr16:1484741 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1960G>C (p.Glu654Gln) | single nucleotide variant | not specified [RCV004434918] | Chr16:1434452 [GRCh38] Chr16:1484453 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.383C>T (p.Ala128Val) | single nucleotide variant | not specified [RCV004434923] | Chr16:1443537 [GRCh38] Chr16:1493538 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.95G>A (p.Gly32Glu) | single nucleotide variant | not specified [RCV004434928] | Chr16:1443925 [GRCh38] Chr16:1493926 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.311T>C (p.Leu104Pro) | single nucleotide variant | not specified [RCV004434921] | Chr16:1443609 [GRCh38] Chr16:1493610 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1403C>G (p.Pro468Arg) | single nucleotide variant | not specified [RCV004434911] | Chr16:1436699 [GRCh38] Chr16:1486700 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1082A>G (p.Gln361Arg) | single nucleotide variant | not specified [RCV004434905] | Chr16:1438120 [GRCh38] Chr16:1488121 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.122G>T (p.Ser41Ile) | single nucleotide variant | not specified [RCV004434908] | Chr16:1443898 [GRCh38] Chr16:1493899 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1381C>T (p.Arg461Trp) | single nucleotide variant | not specified [RCV004434909] | Chr16:1436721 [GRCh38] Chr16:1486722 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1871C>T (p.Ala624Val) | single nucleotide variant | not specified [RCV004434915] | Chr16:1434674 [GRCh38] Chr16:1484675 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.365A>G (p.Gln122Arg) | single nucleotide variant | not specified [RCV004434922] | Chr16:1443555 [GRCh38] Chr16:1493556 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.614C>T (p.Ala205Val) | single nucleotide variant | not specified [RCV004434925] | Chr16:1442467 [GRCh38] Chr16:1492468 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1169G>A (p.Arg390Gln) | single nucleotide variant | not specified [RCV004434906] | Chr16:1437938 [GRCh38] Chr16:1487939 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1644G>T (p.Gln548His) | single nucleotide variant | not specified [RCV004434912] | Chr16:1435137 [GRCh38] Chr16:1485138 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1886G>A (p.Arg629His) | single nucleotide variant | not specified [RCV004434916] | Chr16:1434526 [GRCh38] Chr16:1484527 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1922G>A (p.Arg641Gln) | single nucleotide variant | not specified [RCV004434917] | Chr16:1434490 [GRCh38] Chr16:1484491 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.290C>T (p.Thr97Met) | single nucleotide variant | not specified [RCV004434920] | Chr16:1443630 [GRCh38] Chr16:1493631 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.544G>A (p.Gly182Ser) | single nucleotide variant | not specified [RCV004434924] | Chr16:1442887 [GRCh38] Chr16:1492888 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.878G>A (p.Arg293His) | single nucleotide variant | not specified [RCV004434926] | Chr16:1438843 [GRCh38] Chr16:1488844 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.944C>T (p.Ala315Val) | single nucleotide variant | not specified [RCV004434927] | Chr16:1438700 [GRCh38] Chr16:1488701 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(1557737_?)del | deletion | not provided [RCV004582850] | Chr16:256302..1557737 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_001143980.3(CCDC154):c.452A>G (p.Lys151Arg) | single nucleotide variant | not specified [RCV004602945] | Chr16:1443264 [GRCh38] Chr16:1493265 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_339420)_(3767509_?)dup | duplication | Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] | Chr16:339420..3767509 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.150G>T (p.Glu50Asp) | single nucleotide variant | not specified [RCV004602944] | Chr16:1443870 [GRCh38] Chr16:1493871 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1804C>T (p.Arg602Trp) | single nucleotide variant | not specified [RCV004602943] | Chr16:1434741 [GRCh38] Chr16:1484742 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1247G>A (p.Arg416Gln) | single nucleotide variant | not specified [RCV004602950] | Chr16:1437860 [GRCh38] Chr16:1487861 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.18C>G (p.Asp6Glu) | single nucleotide variant | not specified [RCV004602947] | Chr16:1444002 [GRCh38] Chr16:1494003 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.284G>A (p.Arg95His) | single nucleotide variant | not specified [RCV004602948] | Chr16:1443636 [GRCh38] Chr16:1493637 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_001143980.3(CCDC154):c.1310G>A (p.Gly437Asp) | single nucleotide variant | not specified [RCV004602949] | Chr16:1436792 [GRCh38] Chr16:1486793 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.521G>A (p.Arg174Lys) | single nucleotide variant | not specified [RCV004602951] | Chr16:1442910 [GRCh38] Chr16:1492911 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_001143980.3(CCDC154):c.1870G>T (p.Ala624Ser) | single nucleotide variant | not specified [RCV004602946] | Chr16:1434675 [GRCh38] Chr16:1484676 [GRCh37] Chr16:16p13.3 |
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 |
RH102989 |
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RH12098 |
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A005U10 |
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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
|
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
|
sensory system
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1204 | 2420 | 2787 | 2243 | 4932 | 1714 | 2329 | 4 | 613 | 1860 | 455 | 2261 | 7169 | 6364 | 51 | 3705 | 841 | 1724 | 1604 | 169 |
Ensembl Acc Id: | ENST00000389176 ⟹ ENSP00000373828 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000409671 ⟹ ENSP00000386744 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000463299 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000483702 ⟹ ENSP00000456484 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001143980 ⟹ NP_001137452 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_054313689 ⟹ XP_054169664 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001137452 | (Get FASTA) | NCBI Sequence Viewer |
XP_054169664 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | A6NI56 | (Get FASTA) | NCBI Sequence Viewer |
AEW67365 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000373828 | ||
ENSP00000373828.4 | |||
ENSP00000386744.1 | |||
ENSP00000456484.1 |
RefSeq Acc Id: | NP_001137452 ⟸ NM_001143980 |
- UniProtKB: | G9JV18 (UniProtKB/Swiss-Prot), A6NI56 (UniProtKB/Swiss-Prot), A0A590PWR5 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000373828 ⟸ ENST00000389176 |
Ensembl Acc Id: | ENSP00000456484 ⟸ ENST00000483702 |
Ensembl Acc Id: | ENSP00000386744 ⟸ ENST00000409671 |
RefSeq Acc Id: | XP_054169664 ⟸ XM_054313689 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A6NI56-F1-model_v2 | AlphaFold | A6NI56 | 1-667 | view protein structure |
RGD ID: | 6792904 | ||||||||
Promoter ID: | HG_KWN:22700 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000389176, ENST00000409671, NM_001143980 | ||||||||
Position: |
|
RGD ID: | 7230905 | ||||||||
Promoter ID: | EPDNEW_H21198 | ||||||||
Type: | initiation region | ||||||||
Name: | CCDC154_1 | ||||||||
Description: | coiled-coil domain containing 154 | ||||||||
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:34454 | AgrOrtholog |
COSMIC | CCDC154 | COSMIC |
Ensembl Genes | ENSG00000197599 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000389176 | ENTREZGENE, UniProtKB/TrEMBL |
ENST00000389176.4 | UniProtKB/Swiss-Prot | |
ENST00000409671.5 | UniProtKB/TrEMBL | |
ENST00000483702.5 | UniProtKB/TrEMBL | |
GTEx | ENSG00000197599 | GTEx |
HGNC ID | HGNC:34454 | ENTREZGENE |
Human Proteome Map | CCDC154 | Human Proteome Map |
InterPro | CCDC154 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:645811 | UniProtKB/Swiss-Prot |
NCBI Gene | 645811 | ENTREZGENE |
OMIM | 618740 | OMIM |
PANTHER | COILED-COIL DOMAIN-CONTAINING PROTEIN 154 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR35153 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | CCDC154 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162381640 | PharmGKB |
UniProt | A0A590PWR5 | ENTREZGENE, UniProtKB/TrEMBL |
A6NI56 | ENTREZGENE | |
B7ZBA8_HUMAN | UniProtKB/TrEMBL | |
CC154_HUMAN | UniProtKB/Swiss-Prot | |
G9JV18 | ENTREZGENE | |
H3BS06_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | G9JV18 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-05 | CCDC154 | coiled-coil domain containing 154 | C16orf29 | chromosome 16 open reading frame 29 | Data merged from RGD:1349511 | 737654 | PROVISIONAL |