Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30081150 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30081150 | |
|
|
|
|
|
|
|
|
|
|
|
# | 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:12477932 | PMID:12766759 | PMID:15705585 | PMID:17925653 | PMID:18976975 | PMID:21873635 | PMID:22718770 | PMID:22863753 | PMID:24062750 | PMID:24560620 | PMID:25277106 | PMID:26378020 |
PMID:26763980 | PMID:28584053 | PMID:28731142 | PMID:30021884 | PMID:30081150 | PMID:31253590 | PMID:31303617 | PMID:32129710 | PMID:32584509 | PMID:33001583 | PMID:34533122 | PMID:36808166 |
PMID:37586455 | PMID:37708849 |
NLRC3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nlrc3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nlrc3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nlrc3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NLRC3 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NLRC3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nlrc3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NLRC3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NLRC3 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nlrc3 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in NLRC3
100 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 | copy number gain | See cases [RCV000052395] | Chr16:2717952..4041020 [GRCh38] Chr16:2767953..4091021 [GRCh37] Chr16:2707954..4031022 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3 | copy number gain | See cases [RCV000052396] | Chr16:3493167..3993345 [GRCh38] Chr16:3543167..4043346 [GRCh37] Chr16:3483168..3983347 [NCBI36] Chr16:16p13.3 |
pathogenic |
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(chr16:2850734-7110697)x1 | copy number loss | See cases [RCV000053270] | Chr16:2850734..7110697 [GRCh38] Chr16:2900735..7160698 [GRCh37] Chr16:2840736..7100699 [NCBI36] Chr16:16p13.3 |
pathogenic |
NM_178844.3(NLRC3):c.1219G>A (p.Gly407Arg) | single nucleotide variant | Malignant melanoma [RCV000071119] | Chr16:3563718 [GRCh38] Chr16:3613719 [GRCh37] Chr16:3553720 [NCBI36] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2940-184G>T | single nucleotide variant | not provided [RCV000089218] | Chr16:3542959 [GRCh38] Chr16:3592959 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2938G>A (p.Asp980Asn) | single nucleotide variant | not provided [RCV000089219] | Chr16:3543426 [GRCh38] Chr16:3593426 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2687+86C>G | single nucleotide variant | not provided [RCV000089220] | Chr16:3548584 [GRCh38] Chr16:3598584 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2630A>C (p.Gln877Pro) | single nucleotide variant | not provided [RCV000089221] | Chr16:3548727 [GRCh38] Chr16:3598727 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2583C>G (p.Asn861Lys) | single nucleotide variant | not provided [RCV000089222] | Chr16:3549162 [GRCh38] Chr16:3599162 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.-341G>T | single nucleotide variant | not provided [RCV000089223] | Chr16:3577321 [GRCh38] Chr16:3627322 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.3(NLRC3):c.-538G>A | single nucleotide variant | not provided [RCV000089224] | Chr16:3577518 [GRCh38] Chr16:3627519 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.3(NLRC3):c.-558C>A | single nucleotide variant | not provided [RCV000089225] | Chr16:3577538 [GRCh38] Chr16:3627539 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.3(NLRC3):c.-700G>C | single nucleotide variant | not provided [RCV000089226] | Chr16:3577680 [GRCh38] Chr16:3627681 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.3(NLRC3):c.-800C>T | single nucleotide variant | not provided [RCV000089227] | Chr16:3577780 [GRCh38] Chr16:3627781 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.3(NLRC3):c.-1352G>A | single nucleotide variant | not provided [RCV000089228] | Chr16:3578332 [GRCh38] Chr16:3628333 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1408G>A (p.Ala470Thr) | single nucleotide variant | not provided [RCV000089614] | Chr16:3563529 [GRCh38] Chr16:3613530 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1487G>A (p.Arg496Lys) | single nucleotide variant | not provided [RCV000089615] | Chr16:3563450 [GRCh38] Chr16:3613451 [GRCh37] Chr16:16p13.3 |
benign|not provided |
NM_178844.4(NLRC3):c.1581C>T (p.Ala527=) | single nucleotide variant | not provided [RCV000089616] | Chr16:3563356 [GRCh38] Chr16:3613357 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1782G>A (p.Arg594=) | single nucleotide variant | not provided [RCV000089617] | Chr16:3563155 [GRCh38] Chr16:3613156 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.179-40C>A | single nucleotide variant | not provided [RCV000089618] | Chr16:3564798 [GRCh38] Chr16:3614799 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1870C>T (p.Leu624Phe) | single nucleotide variant | not provided [RCV000089619] | Chr16:3563067 [GRCh38] Chr16:3613068 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1882G>A (p.Val628Ile) | single nucleotide variant | not provided [RCV000089620] | Chr16:3563055 [GRCh38] Chr16:3613056 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1928+163T>C | single nucleotide variant | not provided [RCV000089621] | Chr16:3562846 [GRCh38] Chr16:3612847 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1928+186T>C | single nucleotide variant | not provided [RCV000089622] | Chr16:3562823 [GRCh38] Chr16:3612824 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.1929-115C>G | single nucleotide variant | not provided [RCV000089623] | Chr16:3561903 [GRCh38] Chr16:3611904 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2016-3C>T | single nucleotide variant | not provided [RCV000089624] | Chr16:3557679 [GRCh38] Chr16:3607680 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2100-49C>A | single nucleotide variant | not provided [RCV000089625] | Chr16:3557043 [GRCh38] Chr16:3607044 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2183+249C>T | single nucleotide variant | not provided [RCV000089626] | Chr16:3556662 [GRCh38] Chr16:3606663 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2183+374G>C | single nucleotide variant | not provided [RCV000089627] | Chr16:3556537 [GRCh38] Chr16:3606538 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2184-248T>G | single nucleotide variant | not provided [RCV000089628] | Chr16:3554573 [GRCh38] Chr16:3604574 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2184-293G>C | single nucleotide variant | not provided [RCV000089629] | Chr16:3554618 [GRCh38] Chr16:3604619 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2526A>G (p.Arg842=) | single nucleotide variant | not provided [RCV000089630] | Chr16:3549219 [GRCh38] Chr16:3599219 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.3(NLRC3):c.2757C>T (p.Ser919=) | single nucleotide variant | not provided [RCV000089631] | Chr16:3548149 [GRCh38] Chr16:3598149 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2717C>T (p.Ala906Val) | single nucleotide variant | not provided [RCV000089632] | Chr16:3548189 [GRCh38] Chr16:3598189 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2787C>T (p.Ala929=) | single nucleotide variant | not provided [RCV000089633] | Chr16:3544314 [GRCh38] Chr16:3594314 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.*2C>T | single nucleotide variant | not provided [RCV000089634] | Chr16:3541823 [GRCh38] Chr16:3591823 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.363C>T (p.Thr121=) | single nucleotide variant | not provided [RCV000089635] | Chr16:3564574 [GRCh38] Chr16:3614575 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.613A>G (p.Ser205Gly) | single nucleotide variant | not provided [RCV000089636] | Chr16:3564324 [GRCh38] Chr16:3614325 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.67G>A (p.Glu23Lys) | single nucleotide variant | not provided [RCV000089637] | Chr16:3564970 [GRCh38] Chr16:3614971 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.4(NLRC3):c.2772-51A>G | single nucleotide variant | not provided [RCV000119321] | Chr16:3544380 [GRCh38] Chr16:3594380 [GRCh37] Chr16:16p13.3 |
not provided |
NM_178844.2:c.3109-67T>C | single nucleotide variant | not provided [RCV000119322] | Chr16:16p13.3 | not provided |
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(chr16:46766-4247185)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(chr16:3560564-4266796)x1 | copy number loss | See cases [RCV000137944] | Chr16:3560564..4266796 [GRCh38] Chr16:3610565..4316797 [GRCh37] Chr16:3550566..4256798 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3 | copy number gain | See cases [RCV000138346] | Chr16:3303551..3965374 [GRCh38] Chr16:3353551..4015375 [GRCh37] Chr16:3293552..3955376 [NCBI36] Chr16:16p13.3 |
likely 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(chr16:3061267-3666094)x3 | copy number gain | See cases [RCV000139806] | Chr16:3061267..3666094 [GRCh38] Chr16:3111268..3716095 [GRCh37] Chr16:3051269..3656096 [NCBI36] Chr16:16p13.3 |
uncertain significance |
GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3 | copy number gain | See cases [RCV000140839] | Chr16:3515534..3749385 [GRCh38] Chr16:3565534..3799386 [GRCh37] Chr16:3505535..3739387 [NCBI36] Chr16:16p13.3 |
uncertain significance |
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(chr16:3104050-3722491)x3 | copy number gain | See cases [RCV000240036] | Chr16:3104050..3722491 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3 | copy number gain | See cases [RCV000240318] | Chr16:2867891..3942436 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:3586972-4099566)x3 | copy number gain | See cases [RCV000446299] | Chr16:3586972..4099566 [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 |
maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 | copy number loss | See cases [RCV000511703] | Chr16:3146027..6362229 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 | copy number gain | See cases [RCV000511502] | Chr16:2891391..4440397 [GRCh37] Chr16:16p13.3 |
uncertain significance |
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 |
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 16p13.3-12.3(chr16:85880-19806921)x3 | copy number gain | See cases [RCV000512194] | Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3 |
pathogenic |
NM_178844.4(NLRC3):c.1340C>T (p.Ser447Leu) | single nucleotide variant | Inborn genetic diseases [RCV003268653] | Chr16:3563597 [GRCh38] Chr16:3613598 [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 16p13.3-13.13(chr16:85880-11209288)x3 | copy number gain | not provided [RCV000683743] | Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 | copy number gain | not provided [RCV000683745] | Chr16:1505184..4415346 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3 | copy number gain | not provided [RCV000683748] | Chr16:3265427..3731182 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:3519135-3651271)x1 | copy number loss | not provided [RCV000683749] | Chr16:3519135..3651271 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 | copy number gain | not provided [RCV000683747] | Chr16:2651354..4460114 [GRCh37] Chr16:16p13.3 |
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(chr16:3593549-3621269)x0 | copy number loss | not provided [RCV000739015] | Chr16:3593549..3621269 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:3606947-3614971)x1 | copy number loss | not provided [RCV000739016] | Chr16:3606947..3614971 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:3611610-3613207)x0 | copy number loss | not provided [RCV000739017] | Chr16:3611610..3613207 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:3611718-3621269)x3 | copy number gain | not provided [RCV000739018] | Chr16:3611718..3621269 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:3613019-3614739)x1 | copy number loss | not provided [RCV000739019] | Chr16:3613019..3614739 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:3613019-3614880)x1 | copy number loss | not provided [RCV000739020] | Chr16:3613019..3614880 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:3613019-3614971)x1 | copy number loss | not provided [RCV000739021] | Chr16:3613019..3614971 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:3613170-3614880)x1 | copy number loss | not provided [RCV000739022] | Chr16:3613170..3614880 [GRCh37] Chr16:16p13.3 |
benign |
NM_178844.4(NLRC3):c.879G>T (p.Glu293Asp) | single nucleotide variant | not provided [RCV000947668] | Chr16:3564058 [GRCh38] Chr16:3614059 [GRCh37] Chr16:16p13.3 |
benign |
NM_178844.4(NLRC3):c.179-5C>T | single nucleotide variant | not provided [RCV000947670] | Chr16:3564763 [GRCh38] Chr16:3614764 [GRCh37] Chr16:16p13.3 |
benign |
NM_178844.4(NLRC3):c.1218T>C (p.His406=) | single nucleotide variant | not provided [RCV000967401] | Chr16:3563719 [GRCh38] Chr16:3613720 [GRCh37] Chr16:16p13.3 |
benign |
NM_178844.4(NLRC3):c.858C>G (p.Ile286Met) | single nucleotide variant | not provided [RCV000947669] | Chr16:3564079 [GRCh38] Chr16:3614080 [GRCh37] Chr16:16p13.3 |
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 |
GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3 | copy number gain | not provided [RCV000849936] | Chr16:3112024..3738078 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:3469027-4328143)x3 | copy number gain | not provided [RCV000849459] | Chr16:3469027..4328143 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_178844.4(NLRC3):c.1837G>T (p.Ala613Ser) | single nucleotide variant | Inborn genetic diseases [RCV003251007] | Chr16:3563100 [GRCh38] Chr16:3613101 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1321A>G (p.Arg441Gly) | single nucleotide variant | not provided [RCV000911089] | Chr16:3563616 [GRCh38] Chr16:3613617 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 | copy number gain | not provided [RCV001006745] | Chr16:2651354..4614965 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:3598059-3738078)x1 | copy number loss | not provided [RCV001259849] | Chr16:3598059..3738078 [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(chr16:85880-5249457)x3 | copy number gain | not provided [RCV001259749] | Chr16:85880..5249457 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 | copy number gain | See cases [RCV001263169] | Chr16:2959279..30190593 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
NC_000016.9:g.(?_3551068)_(3808993_?)dup | duplication | not provided [RCV001943083] | Chr16:3551068..3808993 [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.(?_3293141)_(3929917_?)del | deletion | Rubinstein-Taybi syndrome [RCV001950905] | Chr16:3293141..3929917 [GRCh37] Chr16:16p13.3 |
pathogenic |
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.(?_3293141)_(5971108_?)dup | duplication | Rubinstein-Taybi syndrome [RCV003113465] | Chr16:3293141..5971108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_3551068)_(3901030_?)del | deletion | not provided [RCV003119475] | Chr16:3551068..3901030 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_3586102)_(3658965_?)del | deletion | not provided [RCV003119476] | Chr16:3586102..3658965 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_3565488)_(3801827_?)dup | duplication | not provided [RCV003119479] | Chr16:3565488..3801827 [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_178844.4(NLRC3):c.20G>T (p.Arg7Leu) | single nucleotide variant | Inborn genetic diseases [RCV002990302] | Chr16:3565017 [GRCh38] Chr16:3615018 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.242G>A (p.Gly81Asp) | single nucleotide variant | Inborn genetic diseases [RCV003012604] | Chr16:3564695 [GRCh38] Chr16:3614696 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.346G>A (p.Gly116Arg) | single nucleotide variant | Inborn genetic diseases [RCV002684566] | Chr16:3564591 [GRCh38] Chr16:3614592 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.538C>T (p.Arg180Trp) | single nucleotide variant | Inborn genetic diseases [RCV002883980] | Chr16:3564399 [GRCh38] Chr16:3614400 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1258A>G (p.Met420Val) | single nucleotide variant | Inborn genetic diseases [RCV002997160] | Chr16:3563679 [GRCh38] Chr16:3613680 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2164C>G (p.Arg722Gly) | single nucleotide variant | Inborn genetic diseases [RCV002880196] | Chr16:3556930 [GRCh38] Chr16:3606931 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2219G>C (p.Arg740Thr) | single nucleotide variant | Inborn genetic diseases [RCV002970221] | Chr16:3554290 [GRCh38] Chr16:3604291 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.20G>A (p.Arg7Gln) | single nucleotide variant | Inborn genetic diseases [RCV002887207] | Chr16:3565017 [GRCh38] Chr16:3615018 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.805C>T (p.Pro269Ser) | single nucleotide variant | Inborn genetic diseases [RCV002797480] | Chr16:3564132 [GRCh38] Chr16:3614133 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1162C>G (p.Gln388Glu) | single nucleotide variant | Inborn genetic diseases [RCV002799624] | Chr16:3563775 [GRCh38] Chr16:3613776 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.980C>G (p.Thr327Ser) | single nucleotide variant | Inborn genetic diseases [RCV002704105] | Chr16:3563957 [GRCh38] Chr16:3613958 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2173A>G (p.Thr725Ala) | single nucleotide variant | Inborn genetic diseases [RCV002784879] | Chr16:3556921 [GRCh38] Chr16:3606922 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_178844.4(NLRC3):c.397C>T (p.Arg133Trp) | single nucleotide variant | Inborn genetic diseases [RCV002978463] | Chr16:3564540 [GRCh38] Chr16:3614541 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1040C>T (p.Thr347Met) | single nucleotide variant | Inborn genetic diseases [RCV002980222] | Chr16:3563897 [GRCh38] Chr16:3613898 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.313G>A (p.Asp105Asn) | single nucleotide variant | Inborn genetic diseases [RCV002924193] | Chr16:3564624 [GRCh38] Chr16:3614625 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1636G>A (p.Val546Met) | single nucleotide variant | Inborn genetic diseases [RCV002757477] | Chr16:3563301 [GRCh38] Chr16:3613302 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1663C>T (p.Arg555Cys) | single nucleotide variant | Inborn genetic diseases [RCV002787619] | Chr16:3563274 [GRCh38] Chr16:3613275 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2165G>A (p.Arg722His) | single nucleotide variant | Inborn genetic diseases [RCV002787580] | Chr16:3556929 [GRCh38] Chr16:3606930 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2812G>A (p.Val938Met) | single nucleotide variant | Inborn genetic diseases [RCV002803867] | Chr16:3544289 [GRCh38] Chr16:3594289 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2157G>T (p.Lys719Asn) | single nucleotide variant | Inborn genetic diseases [RCV002873348] | Chr16:3556937 [GRCh38] Chr16:3606938 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.87G>C (p.Met29Ile) | single nucleotide variant | Inborn genetic diseases [RCV002713279] | Chr16:3564950 [GRCh38] Chr16:3614951 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1112C>T (p.Ala371Val) | single nucleotide variant | Inborn genetic diseases [RCV002698403] | Chr16:3563825 [GRCh38] Chr16:3613826 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2230G>A (p.Glu744Lys) | single nucleotide variant | Inborn genetic diseases [RCV002744174] | Chr16:3554279 [GRCh38] Chr16:3604280 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2287G>A (p.Gly763Arg) | single nucleotide variant | Inborn genetic diseases [RCV002853642] | Chr16:3552260 [GRCh38] Chr16:3602261 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1030C>T (p.Arg344Cys) | single nucleotide variant | Inborn genetic diseases [RCV002652285] | Chr16:3563907 [GRCh38] Chr16:3613908 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.127C>A (p.Pro43Thr) | single nucleotide variant | Inborn genetic diseases [RCV002964133] | Chr16:3564910 [GRCh38] Chr16:3614911 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.800C>T (p.Ser267Phe) | single nucleotide variant | Inborn genetic diseases [RCV002747517] | Chr16:3564137 [GRCh38] Chr16:3614138 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1732G>C (p.Glu578Gln) | single nucleotide variant | Inborn genetic diseases [RCV002855577] | Chr16:3563205 [GRCh38] Chr16:3613206 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1588G>A (p.Ala530Thr) | single nucleotide variant | Inborn genetic diseases [RCV002809527] | Chr16:3563349 [GRCh38] Chr16:3613350 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.917A>C (p.Gln306Pro) | single nucleotide variant | Inborn genetic diseases [RCV002944921] | Chr16:3564020 [GRCh38] Chr16:3614021 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1325A>G (p.Glu442Gly) | single nucleotide variant | Inborn genetic diseases [RCV002723313] | Chr16:3563612 [GRCh38] Chr16:3613613 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.3137G>A (p.Gly1046Glu) | single nucleotide variant | Inborn genetic diseases [RCV002657167] | Chr16:3541886 [GRCh38] Chr16:3591886 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.776C>T (p.Pro259Leu) | single nucleotide variant | Inborn genetic diseases [RCV002655334] | Chr16:3564161 [GRCh38] Chr16:3614162 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.23C>T (p.Thr8Met) | single nucleotide variant | Inborn genetic diseases [RCV003279475] | Chr16:3565014 [GRCh38] Chr16:3615015 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2191G>A (p.Gly731Ser) | single nucleotide variant | Inborn genetic diseases [RCV003210261] | Chr16:3554318 [GRCh38] Chr16:3604319 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh38/hg38 16p13.3(chr16:3499966-3774794) | copy number gain | Anomalous pulmonary venous return [RCV003223569] | Chr16:3499966..3774794 [GRCh38] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.721A>G (p.Lys241Glu) | single nucleotide variant | Inborn genetic diseases [RCV003180678] | Chr16:3564216 [GRCh38] Chr16:3614217 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.539G>A (p.Arg180Gln) | single nucleotide variant | Inborn genetic diseases [RCV003192038] | Chr16:3564398 [GRCh38] Chr16:3614399 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.614G>C (p.Ser205Thr) | single nucleotide variant | Inborn genetic diseases [RCV003216798] | Chr16:3564323 [GRCh38] Chr16:3614324 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.700G>A (p.Val234Met) | single nucleotide variant | Inborn genetic diseases [RCV003195268] | Chr16:3564237 [GRCh38] Chr16:3614238 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2422C>G (p.Leu808Val) | single nucleotide variant | Inborn genetic diseases [RCV003212013] | Chr16:3550427 [GRCh38] Chr16:3600427 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1322G>A (p.Arg441Lys) | single nucleotide variant | Inborn genetic diseases [RCV003188510] | Chr16:3563615 [GRCh38] Chr16:3613616 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.337C>T (p.Arg113Cys) | single nucleotide variant | Inborn genetic diseases [RCV003184903] | Chr16:3564600 [GRCh38] Chr16:3614601 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.2138C>A (p.Ala713Glu) | single nucleotide variant | Inborn genetic diseases [RCV003208311] | Chr16:3556956 [GRCh38] Chr16:3606957 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1672G>A (p.Ala558Thr) | single nucleotide variant | not specified [RCV003322424] | Chr16:3563265 [GRCh38] Chr16:3613266 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1580C>T (p.Ala527Val) | single nucleotide variant | Inborn genetic diseases [RCV003308814] | Chr16:3563357 [GRCh38] Chr16:3613358 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.409C>T (p.Pro137Ser) | single nucleotide variant | Inborn genetic diseases [RCV003260322] | Chr16:3564528 [GRCh38] Chr16:3614529 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.731C>G (p.Pro244Arg) | single nucleotide variant | Inborn genetic diseases [RCV003379018] | Chr16:3564206 [GRCh38] Chr16:3614207 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.56G>T (p.Gly19Val) | single nucleotide variant | Inborn genetic diseases [RCV003364591] | Chr16:3564981 [GRCh38] Chr16:3614982 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1004C>T (p.Thr335Met) | single nucleotide variant | Inborn genetic diseases [RCV003351197] | Chr16:3563933 [GRCh38] Chr16:3613934 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_178844.4(NLRC3):c.1408G>C (p.Ala470Pro) | single nucleotide variant | Inborn genetic diseases [RCV003385383] | Chr16:3563529 [GRCh38] Chr16:3613530 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1595C>T (p.Ser532Phe) | single nucleotide variant | Inborn genetic diseases [RCV003374404] | Chr16:3563342 [GRCh38] Chr16:3613343 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1341G>A (p.Ser447=) | single nucleotide variant | not provided [RCV003426550] | Chr16:3563596 [GRCh38] Chr16:3613597 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3 | copy number gain | not provided [RCV003485082] | Chr16:2606711..3935836 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3 | copy number gain | not provided [RCV003485084] | Chr16:2643569..3716657 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.1611C>T (p.Gly537=) | single nucleotide variant | not provided [RCV003426549] | Chr16:3563326 [GRCh38] Chr16:3613327 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_178844.4(NLRC3):c.417G>A (p.Arg139=) | single nucleotide variant | not provided [RCV003411242] | Chr16:3564520 [GRCh38] Chr16:3614521 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_178844.4(NLRC3):c.37G>A (p.Gly13Ser) | single nucleotide variant | not provided [RCV003426553] | Chr16:3565000 [GRCh38] Chr16:3615001 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_178844.4(NLRC3):c.325G>C (p.Val109Leu) | single nucleotide variant | not provided [RCV003426551] | Chr16:3564612 [GRCh38] Chr16:3614613 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_178844.4(NLRC3):c.2716G>A (p.Ala906Thr) | single nucleotide variant | not provided [RCV003426548] | Chr16:3548190 [GRCh38] Chr16:3598190 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_178844.4(NLRC3):c.199C>T (p.Arg67Cys) | single nucleotide variant | not provided [RCV003426552] | Chr16:3564738 [GRCh38] Chr16:3614739 [GRCh37] Chr16:16p13.3 |
likely benign |
GRCh37/hg19 16p13.3(chr16:3598059-3677837)x1 | copy number loss | not specified [RCV003987201] | Chr16:3598059..3677837 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1 | copy number loss | not provided [RCV003885471] | Chr16:2990033..4837646 [GRCh37] Chr16:16p13.3 |
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. |
SHGC-60735 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-61133 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D16S3381 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D17S610 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D8S2279 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D16S3380 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GDB:631813 |
|
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 | 87 | 152 | 35 | 2 | 1094 | 2 | 3 | 1 | 4 | 10 | 91 | 5 | ||||||
Low | 2256 | 2673 | 1592 | 548 | 819 | 387 | 3812 | 1754 | 3474 | 365 | 1368 | 1388 | 166 | 1 | 1185 | 2394 | 3 | 2 |
Below cutoff | 89 | 165 | 98 | 74 | 37 | 76 | 540 | 437 | 249 | 46 | 79 | 130 | 7 | 14 | 394 | 2 |
RefSeq Transcripts | NG_033123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_178844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_075083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017023039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047433769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047433770 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047433771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054379802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054379803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054379804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC004494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC006111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF501291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF501292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK090431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK090476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW271824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY601811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BK001112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ889357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FO082291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000324659 ⟹ ENSP00000323897 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000359128 ⟹ ENSP00000352039 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000603055 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000615877 ⟹ ENSP00000482989 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000618137 ⟹ ENSP00000482302 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_178844 ⟹ NP_849172 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_075083 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_047433769 ⟹ XP_047289725 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433770 ⟹ XP_047289726 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433771 ⟹ XP_047289727 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379802 ⟹ XP_054235777 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379803 ⟹ XP_054235778 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054379804 ⟹ XP_054235779 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_849172 | (Get FASTA) | NCBI Sequence Viewer |
XP_047289725 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047289726 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047289727 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054235777 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054235778 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054235779 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAM22459 | (Get FASTA) | NCBI Sequence Viewer |
AAM22460 | (Get FASTA) | NCBI Sequence Viewer | |
AAT48367 | (Get FASTA) | NCBI Sequence Viewer | |
ACP40993 | (Get FASTA) | NCBI Sequence Viewer | |
BAB84935 | (Get FASTA) | NCBI Sequence Viewer | |
BAC03412 | (Get FASTA) | NCBI Sequence Viewer | |
BAC03457 | (Get FASTA) | NCBI Sequence Viewer | |
DAA01245 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85348 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85349 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85350 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85351 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000323897.9 | ||
ENSP00000352039 | |||
ENSP00000352039.6 | |||
ENSP00000482302.1 | |||
ENSP00000482989.1 | |||
GenBank Protein | Q7RTR2 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_849172 ⟸ NM_178844 |
- UniProtKB: | Q8NI02 (UniProtKB/Swiss-Prot), Q8NI01 (UniProtKB/Swiss-Prot), Q8NF48 (UniProtKB/Swiss-Prot), Q5EY36 (UniProtKB/Swiss-Prot), Q8TEL3 (UniProtKB/Swiss-Prot), Q7RTR2 (UniProtKB/Swiss-Prot), C3VPR7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000352039 ⟸ ENST00000359128 |
RefSeq Acc Id: | ENSP00000323897 ⟸ ENST00000324659 |
RefSeq Acc Id: | ENSP00000482989 ⟸ ENST00000615877 |
RefSeq Acc Id: | ENSP00000482302 ⟸ ENST00000618137 |
RefSeq Acc Id: | XP_047289725 ⟸ XM_047433769 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NI02 (UniProtKB/Swiss-Prot), Q8NI01 (UniProtKB/Swiss-Prot), Q8NF48 (UniProtKB/Swiss-Prot), Q7RTR2 (UniProtKB/Swiss-Prot), Q5EY36 (UniProtKB/Swiss-Prot), Q8TEL3 (UniProtKB/Swiss-Prot), C3VPR7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047289726 ⟸ XM_047433770 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047289727 ⟸ XM_047433771 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054235777 ⟸ XM_054379802 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8NI02 (UniProtKB/Swiss-Prot), Q8NI01 (UniProtKB/Swiss-Prot), Q8NF48 (UniProtKB/Swiss-Prot), Q7RTR2 (UniProtKB/Swiss-Prot), Q5EY36 (UniProtKB/Swiss-Prot), Q8TEL3 (UniProtKB/Swiss-Prot), C3VPR7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054235778 ⟸ XM_054379803 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054235779 ⟸ XM_054379804 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q7RTR2-F1-model_v2 | AlphaFold | Q7RTR2 | 1-1065 | view protein structure |
RGD ID: | 6793049 | ||||||||
Promoter ID: | HG_KWN:22901 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | NB4 | ||||||||
Transcripts: | ENST00000359128 | ||||||||
Position: |
|
RGD ID: | 7231163 | ||||||||
Promoter ID: | EPDNEW_H21326 | ||||||||
Type: | initiation region | ||||||||
Name: | NLRC3_2 | ||||||||
Description: | NLR family CARD domain containing 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21327 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6793334 | ||||||||
Promoter ID: | HG_KWN:22902 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000301749, ENST00000324659, NM_178844, UC010BTN.1 | ||||||||
Position: |
|
RGD ID: | 7231161 | ||||||||
Promoter ID: | EPDNEW_H21327 | ||||||||
Type: | initiation region | ||||||||
Name: | NLRC3_1 | ||||||||
Description: | NLR family CARD domain containing 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21326 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:29889 | AgrOrtholog |
COSMIC | NLRC3 | COSMIC |
Ensembl Genes | ENSG00000167984 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000324659.12 | UniProtKB/TrEMBL |
ENST00000359128 | ENTREZGENE | |
ENST00000359128.10 | UniProtKB/Swiss-Prot | |
ENST00000615877 | ENTREZGENE | |
ENST00000615877.4 | UniProtKB/Swiss-Prot | |
ENST00000618137.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.80.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000167984 | GTEx |
HGNC ID | HGNC:29889 | ENTREZGENE |
Human Proteome Map | NLRC3 | Human Proteome Map |
InterPro | Leu-rich_rpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
LRR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NACHT_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NLRC_HD2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NOD2_WH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:197358 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 197358 | ENTREZGENE |
OMIM | 615648 | OMIM |
PANTHER | LEUCINE-RICH REPEAT PROTEIN (LRRP) | UniProtKB/TrEMBL |
LEUCINE-RICH REPEAT-CONTAINING PROTEIN 34 | UniProtKB/TrEMBL | |
NACHT, LRR AND CARD DOMAINS-CONTAINING | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NLR FAMILY CARD DOMAIN-CONTAINING PROTEIN 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | LRR_6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NACHT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NLRC4_HD2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NOD2_WH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA162397626 | PharmGKB |
PROSITE | NACHT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | LRR_RI | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | RNI-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A087WZ24_HUMAN | UniProtKB/TrEMBL |
C3VPR7 | ENTREZGENE, UniProtKB/TrEMBL | |
H3BLT9_HUMAN | UniProtKB/TrEMBL | |
NLRC3_HUMAN | UniProtKB/Swiss-Prot | |
Q5EY36 | ENTREZGENE | |
Q7RTR2 | ENTREZGENE | |
Q8NF06_HUMAN | UniProtKB/TrEMBL | |
Q8NF48 | ENTREZGENE | |
Q8NI01 | ENTREZGENE | |
Q8NI02 | ENTREZGENE | |
Q8TEL3 | ENTREZGENE | |
UniProt Secondary | Q5EY36 | UniProtKB/Swiss-Prot |
Q8NF48 | UniProtKB/Swiss-Prot | |
Q8NI01 | UniProtKB/Swiss-Prot | |
Q8NI02 | UniProtKB/Swiss-Prot | |
Q8TEL3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-06-07 | NLRC3 | NLR family CARD domain containing 3 | NLR family, CARD domain containing 3 | Symbol and/or name change | 5135510 | APPROVED |