TNNT1 (troponin T1, slow skeletal type) - Rat Genome Database

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Gene: TNNT1 (troponin T1, slow skeletal type) Homo sapiens
Analyze
Symbol: TNNT1
Name: troponin T1, slow skeletal type
RGD ID: 733051
HGNC Page HGNC:11948
Description: Enables tropomyosin binding activity. Involved in negative regulation of muscle contraction and skeletal muscle contraction. Part of troponin complex. Implicated in nemaline myopathy 5A; nemaline myopathy 5B; and nemaline myopathy 5C.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANM; FLJ98147; MGC104241; NEM5; nemaline myopathy type 5; slow skeletal muscle troponin T; STNT; TNT; TNTS; troponin T type 1 (skeletal, slow); troponin T, slow skeletal muscle; troponin t1, skeletal, slow; troponin-T1, skeletal, slow
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381955,132,698 - 55,149,206 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,132,698 - 55,149,206 (-)EnsemblGRCh38hg38GRCh38
GRCh371955,644,066 - 55,660,574 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361960,336,009 - 60,352,386 (-)NCBINCBI36Build 36hg18NCBI36
Build 341960,336,008 - 60,352,386NCBI
Celera1952,683,099 - 52,701,800 (-)NCBICelera
Cytogenetic Map19q13.42NCBI
HuRef1951,967,104 - 51,981,532 (-)NCBIHuRef
CHM1_11955,637,767 - 55,654,167 (-)NCBICHM1_1
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP,ISO)
Cannabidivarin  (EXP,ISO)
cantharidin  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
Cuprizon  (ISO)
daunorubicin  (EXP)
diethyl malate  (ISO)
diiodine  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
hydrogen peroxide  (EXP)
isoprenaline  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lithium chloride  (EXP)
manganese(II) chloride  (ISO)
methylmercury chloride  (EXP)
mitoxantrone  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
naphthalene  (ISO)
oleuropein  (ISO)
ozone  (ISO)
paracetamol  (ISO)
pentanal  (EXP)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
pyrogallol  (ISO)
rac-lactic acid  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
spermine  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
valproic acid  (EXP)
XL147  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
troponin complex  (IBA,IDA,IEA,IMP,ISO)

Molecular Function
protein binding  (IPI)
tropomyosin binding  (IBA,IEA,IMP,IPI)
troponin T binding  (IBA,IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Achilles tendon contracture  (IAGP)
Ankle contracture  (IAGP)
Areflexia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cardiomyopathy  (IAGP)
Congenital onset  (IAGP)
Decreased hip abduction  (IAGP)
Delayed gross motor development  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Difficulty walking  (IAGP)
Dysphagia  (IAGP)
Elbow contracture  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Expressive language delay  (IAGP)
Fatty replacement of ventricular myocardial tissue  (IAGP)
Feeding difficulties  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Gowers sign  (IAGP)
High palate  (IAGP)
Hip contracture  (IAGP)
Hyperlordosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypotonia  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Long face  (IAGP)
Lower limb muscle weakness  (IAGP)
Minicore myopathy  (IAGP)
Motor delay  (IAGP)
Myopathic facies  (IAGP)
Myopathy  (IAGP)
Neck flexor weakness  (IAGP)
Nemaline bodies  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Obstructive sleep apnea  (IAGP)
Pectus carinatum  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Pes cavus  (IAGP)
Poor head control  (IAGP)
Progressive muscle weakness  (IAGP)
Proximal amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Quadriceps muscle weakness  (IAGP)
Reduced forced vital capacity  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Rhabdomyolysis  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Shoulder flexion contracture  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slender build  (IAGP)
Spinal rigidity  (IAGP)
Tip-toe gait  (IAGP)
Tremor  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Waddling gait  (IAGP)
Weakness of facial musculature  (IAGP)
Wrist flexion contracture  (IAGP)
Young adult onset  (IAGP)
Z-band streaming  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Johnston JJ, etal., Am J Hum Genet 2000 Oct;67(4):814-21. Epub 2000 Aug 21.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1473264   PMID:1505979   PMID:1551677   PMID:1706783   PMID:2687327   PMID:2824479   PMID:3611073   PMID:6822572   PMID:8135831   PMID:8403232   PMID:8681137   PMID:8987992  
PMID:9448267   PMID:9724539   PMID:10191089   PMID:10451243   PMID:10529204   PMID:10601315   PMID:11904166   PMID:12477932   PMID:15489334   PMID:15495263   PMID:15665378   PMID:15761153  
PMID:15967462   PMID:16169070   PMID:16189514   PMID:18032382   PMID:18579801   PMID:19326042   PMID:19541721   PMID:19690080   PMID:19913121   PMID:19916752   PMID:20038417   PMID:20301465  
PMID:20380359   PMID:20628086   PMID:20889975   PMID:21111984   PMID:21448949   PMID:21516116   PMID:21683708   PMID:21729325   PMID:21784424   PMID:21873635   PMID:21900206   PMID:22239123  
PMID:22448368   PMID:22977240   PMID:23244308   PMID:23414517   PMID:24020864   PMID:24625749   PMID:24781421   PMID:25416956   PMID:25910212   PMID:26296490   PMID:26774798   PMID:26950807  
PMID:27429059   PMID:27903076   PMID:28530094   PMID:28923663   PMID:29178646   PMID:29872149   PMID:29880121   PMID:29931346   PMID:30021884   PMID:30031058   PMID:31512553   PMID:31515488  
PMID:31830337   PMID:31970803   PMID:32296183   PMID:32994279   PMID:33051334   PMID:33961781   PMID:35053326   PMID:35165004   PMID:35510366   PMID:36871674   PMID:37632133  


Genomics

Comparative Map Data
TNNT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381955,132,698 - 55,149,206 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,132,698 - 55,149,206 (-)EnsemblGRCh38hg38GRCh38
GRCh371955,644,066 - 55,660,574 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361960,336,009 - 60,352,386 (-)NCBINCBI36Build 36hg18NCBI36
Build 341960,336,008 - 60,352,386NCBI
Celera1952,683,099 - 52,701,800 (-)NCBICelera
Cytogenetic Map19q13.42NCBI
HuRef1951,967,104 - 51,981,532 (-)NCBIHuRef
CHM1_11955,637,767 - 55,654,167 (-)NCBICHM1_1
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBIT2T-CHM13v2.0
Tnnt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3974,507,568 - 4,518,974 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl74,507,569 - 4,519,381 (-)EnsemblGRCm39 Ensembl
GRCm3874,504,569 - 4,515,975 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl74,504,570 - 4,516,382 (-)EnsemblGRCm38mm10GRCm38
MGSCv3774,456,265 - 4,467,577 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3674,107,750 - 4,119,062 (-)NCBIMGSCv36mm8
Celera74,249,175 - 4,260,487 (-)NCBICelera
Cytogenetic Map7A1NCBI
cM Map72.6NCBI
Tnnt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8178,349,035 - 78,359,394 (+)NCBIGRCr8
mRatBN7.2169,306,362 - 69,316,721 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl169,306,362 - 69,316,721 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx174,665,281 - 74,675,640 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0183,229,594 - 83,239,953 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0176,379,084 - 76,389,599 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0172,889,270 - 72,899,629 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl172,889,270 - 72,899,659 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0175,652,123 - 75,662,339 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4168,036,411 - 68,045,142 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1168,114,521 - 68,123,253 (+)NCBI
Celera167,811,420 - 67,821,558 (-)NCBICelera
Cytogenetic Map1q12NCBI
Tnnt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555671,043,026 - 1,055,039 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555671,039,625 - 1,050,581 (+)NCBIChiLan1.0ChiLan1.0
TNNT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22061,268,613 - 61,282,914 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11962,997,739 - 63,012,038 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01952,173,523 - 52,190,577 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11960,868,241 - 60,885,197 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1960,868,330 - 60,882,005 (-)Ensemblpanpan1.1panPan2
TNNT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11102,479,617 - 102,490,776 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1102,366,801 - 102,491,147 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1102,536,670 - 102,547,827 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01103,133,191 - 103,144,315 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1102,973,590 - 103,144,307 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11102,770,115 - 102,781,270 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01102,481,708 - 102,492,858 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01103,245,737 - 103,256,895 (+)NCBIUU_Cfam_GSD_1.0
Tnnt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093492,124,674 - 2,133,897 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936886425,438 - 435,500 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936886425,331 - 434,546 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNNT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl659,347,582 - 59,365,284 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1659,351,445 - 59,365,584 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2654,300,086 - 54,314,541 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TNNT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1647,726,049 - 47,743,465 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl647,726,002 - 47,743,404 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045282,217 - 298,212 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnnt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248322,094,903 - 2,100,560 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248322,093,852 - 2,100,647 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNNT1
302 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003283.6(TNNT1):c.780C>T (p.His260=) single nucleotide variant Nemaline myopathy 5 [RCV000546860] Chr19:55133898 [GRCh38]
Chr19:55645266 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr) single nucleotide variant Nemaline myopathy 5 [RCV000545944] Chr19:55132950 [GRCh38]
Chr19:55644318 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.725C>T (p.Ala242Val) single nucleotide variant Nemaline myopathy 5 [RCV000641952] Chr19:55134091 [GRCh38]
Chr19:55645459 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.523C>G (p.Arg175Gly) single nucleotide variant Nemaline myopathy 5 [RCV000641953] Chr19:55137191 [GRCh38]
Chr19:55648559 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.792-2A>G single nucleotide variant Nemaline myopathy 5 [RCV000552639] Chr19:55132962 [GRCh38]
Chr19:55644330 [GRCh37]
Chr19:19q13.42
likely pathogenic|uncertain significance
NM_003283.6(TNNT1):c.-20A>G single nucleotide variant Dilated Cardiomyopathy, Recessive [RCV000383640]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000289192]|Familial restrictive cardiomyopathy [RCV000380170]|Hypertrophic cardiomyopathy [RCV000344273]|Nemaline Myopathy, Recessive [RCV000272701]|Nemaline myopathy 5 [RCV001129799]|not provided [RCV000024550]|not specified [RCV000431141] Chr19:55149169 [GRCh38]
Chr19:55660537 [GRCh37]
Chr19:19q13.42
benign|likely benign|not provided
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) single nucleotide variant Nemaline myopathy 5 [RCV001080396]|not provided [RCV000024551] Chr19:55141216 [GRCh38]
Chr19:55652584 [GRCh37]
Chr19:19q13.42
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_003283.6(TNNT1):c.795G>T (p.Arg265=) single nucleotide variant Nemaline myopathy 5 [RCV001079399]|not provided [RCV000024552] Chr19:55132957 [GRCh38]
Chr19:55644325 [GRCh37]
Chr19:19q13.42
benign|not provided
NM_003283.6(TNNT1):c.792-114C>T single nucleotide variant not provided [RCV000024553] Chr19:55133074 [GRCh38]
Chr19:55644442 [GRCh37]
Chr19:19q13.42
benign|not provided
NM_003283.6(TNNT1):c.792-278C>A single nucleotide variant not provided [RCV000024554] Chr19:55133238 [GRCh38]
Chr19:55644606 [GRCh37]
Chr19:19q13.42
benign|not provided
NM_003283.6(TNNT1):c.611+201C>T single nucleotide variant not provided [RCV000024555] Chr19:55136902 [GRCh38]
Chr19:55648270 [GRCh37]
Chr19:19q13.42
benign|not provided
NM_003283.6(TNNT1):c.193-88T>C single nucleotide variant not provided [RCV000024556] Chr19:55141390 [GRCh38]
Chr19:55652758 [GRCh37]
Chr19:19q13.42
benign|not provided
NM_003283.6(TNNT1):c.107-108G>T single nucleotide variant not provided [RCV000024557] Chr19:55145673 [GRCh38]
Chr19:55657041 [GRCh37]
Chr19:19q13.42
benign|not provided
NM_003283.6(TNNT1):c.47-13C>T single nucleotide variant Nemaline myopathy 5 [RCV000358097]|not provided [RCV000024558]|not specified [RCV000080083] Chr19:55146720 [GRCh38]
Chr19:55658088 [GRCh37]
Chr19:19q13.42
benign|likely benign|not provided
NM_003283.6(TNNT1):c.-12+30T>C single nucleotide variant not provided [RCV000024559] Chr19:55149131 [GRCh38]
Chr19:55660499 [GRCh37]
Chr19:19q13.42
benign|not provided
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) single nucleotide variant Dilated Cardiomyopathy, Recessive [RCV000354576]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000299675]|Familial restrictive cardiomyopathy [RCV000259493]|Hypertrophic cardiomyopathy [RCV000263178]|Nemaline myopathy 5 [RCV001129797]|not provided [RCV000024560]|not specified [RCV000080082] Chr19:55147019 [GRCh38]
Chr19:55658387 [GRCh37]
Chr19:19q13.42
benign|likely benign|not provided
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) single nucleotide variant Nemaline myopathy 5 [RCV000020554]|not provided [RCV000024549] Chr19:55137176 [GRCh38]
Chr19:55648544 [GRCh37]
Chr19:19q13.42
pathogenic|not provided
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_003283.6(TNNT1):c.129-9T>G single nucleotide variant Nemaline myopathy 5 [RCV000614709]|not specified [RCV000118643] Chr19:55141929 [GRCh38]
Chr19:55653297 [GRCh37]
Chr19:19q13.42
benign|likely benign|conflicting interpretations of pathogenicity
NM_003283.6(TNNT1):c.33-8G>A single nucleotide variant Dilated Cardiomyopathy, Recessive [RCV000330078]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000333667]|Familial restrictive cardiomyopathy [RCV000274929]|Hypertrophic cardiomyopathy [RCV000388119]|Nemaline Myopathy, Recessive [RCV000326614]|Nemaline myopathy 5 [RCV001129798]|not specified [RCV000118644] Chr19:55147029 [GRCh38]
Chr19:55658397 [GRCh37]
Chr19:19q13.42
benign|likely benign|conflicting interpretations of pathogenicity
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) single nucleotide variant Nemaline myopathy 5 [RCV000641949]|not provided [RCV000724813] Chr19:55137134 [GRCh38]
Chr19:55648502 [GRCh37]
Chr19:19q13.42
uncertain significance
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3 copy number gain See cases [RCV000138139] Chr19:55048514..56972458 [GRCh38]
Chr19:55595687..57483826 [GRCh37]
Chr19:60251694..62175638 [NCBI36]
Chr19:19q13.42-13.43
likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3 copy number gain See cases [RCV000142245] Chr19:55037146..56982033 [GRCh38]
Chr19:55548514..57493401 [GRCh37]
Chr19:60240326..62185213 [NCBI36]
Chr19:19q13.42-13.43
uncertain significance
GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3 copy number gain See cases [RCV000142067] Chr19:55066790..55789870 [GRCh38]
Chr19:55578158..56301236 [GRCh37]
Chr19:60269970..60993048 [NCBI36]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.795= (p.Arg265=) single nucleotide variant Nemaline myopathy 5 [RCV001514214]|not specified [RCV000154008] Chr19:55132957 [GRCh38]
Chr19:55644325 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.323C>G (p.Ser108Ter) single nucleotide variant not provided [RCV000154009] Chr19:55140947 [GRCh38]
Chr19:55652315 [GRCh37]
Chr19:19q13.42
pathogenic
GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1 copy number loss Ductal breast carcinoma [RCV000207190] Chr19:54710237..55648526 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.193-42C>G single nucleotide variant not provided [RCV000832020]|not specified [RCV000246122] Chr19:55141344 [GRCh38]
Chr19:55652712 [GRCh37]
Chr19:19q13.42
benign|likely benign
NM_003283.6(TNNT1):c.128+17T>G single nucleotide variant Nemaline myopathy 5 [RCV002058134]|not specified [RCV000249133] Chr19:55145527 [GRCh38]
Chr19:55656895 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.73+39dup duplication not specified [RCV000241909] Chr19:55146635..55146636 [GRCh38]
Chr19:55658003..55658004 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.*12C>T single nucleotide variant not specified [RCV000244369] Chr19:55132903 [GRCh38]
Chr19:55644271 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.751-5C>T single nucleotide variant Nemaline myopathy 5 [RCV000876544]|not provided [RCV001534587]|not specified [RCV000242281] Chr19:55133932 [GRCh38]
Chr19:55645300 [GRCh37]
Chr19:19q13.42
benign|likely benign|conflicting interpretations of pathogenicity
NM_003283.6(TNNT1):c.47-6C>G single nucleotide variant Nemaline myopathy 5 [RCV000553573]|not provided [RCV001582852]|not specified [RCV000249732] Chr19:55146713 [GRCh38]
Chr19:55658081 [GRCh37]
Chr19:19q13.42
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.751-16T>C single nucleotide variant Nemaline myopathy 5 [RCV002058135]|not specified [RCV000245076] Chr19:55133943 [GRCh38]
Chr19:55645311 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.751-42_751-35del microsatellite not provided [RCV001651177]|not specified [RCV000250124] Chr19:55133962..55133969 [GRCh38]
Chr19:55645330..55645337 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.757G>A (p.Val253Met) single nucleotide variant Nemaline myopathy 5 [RCV000295989] Chr19:55133921 [GRCh38]
Chr19:55645289 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) single nucleotide variant Nemaline Myopathy, Recessive [RCV000356816]|Nemaline myopathy 5 [RCV000815173]|not provided [RCV002288975] Chr19:55140915 [GRCh38]
Chr19:55652283 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.611+12G>T single nucleotide variant Nemaline myopathy 5 [RCV000392067] Chr19:55137091 [GRCh38]
Chr19:55648459 [GRCh37]
Chr19:19q13.42
conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.-12+15G>A single nucleotide variant Nemaline Myopathy, Recessive [RCV000362549]|not specified [RCV000609807] Chr19:55149146 [GRCh38]
Chr19:55660514 [GRCh37]
Chr19:19q13.42
likely benign|uncertain significance
NM_003283.6(TNNT1):c.791+12C>T single nucleotide variant Nemaline myopathy 5 [RCV000399124]|not provided [RCV001551007] Chr19:55133875 [GRCh38]
Chr19:55645243 [GRCh37]
Chr19:19q13.42
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.34G>C (p.Glu12Gln) single nucleotide variant Nemaline myopathy 5 [RCV000266816] Chr19:55147020 [GRCh38]
Chr19:55658388 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.73+15T>G single nucleotide variant Nemaline myopathy 5 [RCV000303349] Chr19:55146666 [GRCh38]
Chr19:55658034 [GRCh37]
Chr19:19q13.42
conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.750+15C>T single nucleotide variant Nemaline myopathy 5 [RCV000350860]|not provided [RCV000437985] Chr19:55134051 [GRCh38]
Chr19:55645419 [GRCh37]
Chr19:19q13.42
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.523C>T (p.Arg175Trp) single nucleotide variant not provided [RCV000302040] Chr19:55137191 [GRCh38]
Chr19:55648559 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_000363.5(TNNI3):c.373-10= single nucleotide variant Cardiomyopathy [RCV000769528]|Cardiomyopathy, familial restrictive, 1 [RCV001129874]|Dilated cardiomyopathy 2A [RCV001129877]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV001129875]|Hypertrophic cardiomyopathy 7 [RCV001129876]|Hypertrophic cardiomyopathy [RCV000860231]|Nemaline Myopathy, Recessive [RCV000395490]|Primary ciliary dyskinesia [RCV000340860]|Primary familial hypertrophic cardiomyopathy [RCV000030563]|not provided [RCV001701643]|not specified [RCV000154609] Chr19:55154216 [GRCh38]
Chr19:55665584 [GRCh37]
Chr19:19q13.42
benign|likely benign|conflicting interpretations of pathogenicity
NM_003283.6(TNNT1):c.566G>A (p.Arg189His) single nucleotide variant Nemaline myopathy 5 [RCV000641951]|not provided [RCV003236828] Chr19:55137148 [GRCh38]
Chr19:55648516 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.120dup (p.Lys41fs) duplication Nemaline myopathy 5 [RCV000641947] Chr19:55145551..55145552 [GRCh38]
Chr19:55656919..55656920 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.31_32+1del microsatellite Nemaline myopathy 5 [RCV000797421]|not provided [RCV000594658] Chr19:55147125..55147127 [GRCh38]
Chr19:55658493..55658495 [GRCh37]
Chr19:19q13.42
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.200A>G (p.His67Arg) single nucleotide variant Nemaline myopathy 5 [RCV000539592] Chr19:55141295 [GRCh38]
Chr19:55652663 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.156G>A (p.Pro52=) single nucleotide variant Nemaline myopathy 5 [RCV000641948]|not provided [RCV001721327] Chr19:55141893 [GRCh38]
Chr19:55653261 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.310-14T>C single nucleotide variant Nemaline myopathy 5 [RCV001134782]|not provided [RCV001703774] Chr19:55140974 [GRCh38]
Chr19:55652342 [GRCh37]
Chr19:19q13.42
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.32+8C>T single nucleotide variant not specified [RCV000435719] Chr19:55147118 [GRCh38]
Chr19:55658486 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.611+12G>A single nucleotide variant Nemaline myopathy 5 [RCV001133314]|not specified [RCV000439890] Chr19:55137091 [GRCh38]
Chr19:55648459 [GRCh37]
Chr19:19q13.42
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_003283.6(TNNT1):c.144T>A (p.Pro48=) single nucleotide variant Nemaline myopathy 5 [RCV002056669]|not specified [RCV000420269] Chr19:55141905 [GRCh38]
Chr19:55653273 [GRCh37]
Chr19:19q13.42
likely benign
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 copy number gain See cases [RCV000448186] Chr19:54344821..58956888 [GRCh37]
Chr19:19q13.42-13.43
pathogenic
NM_003283.6(TNNT1):c.134C>T (p.Pro45Leu) single nucleotide variant Nemaline myopathy 5 [RCV000945674]|not specified [RCV000500058] Chr19:55141915 [GRCh38]
Chr19:55653283 [GRCh37]
Chr19:19q13.42
likely benign|uncertain significance
NM_003283.6(TNNT1):c.294C>T (p.Ala98=) single nucleotide variant Nemaline myopathy 5 [RCV000528356]|not specified [RCV000606580] Chr19:55141201 [GRCh38]
Chr19:55652569 [GRCh37]
Chr19:19q13.42
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_003283.6(TNNT1):c.32+5G>A single nucleotide variant Inborn genetic diseases [RCV000622890]|Nemaline myopathy 5 [RCV000538654] Chr19:55147121 [GRCh38]
Chr19:55658489 [GRCh37]
Chr19:19q13.42
likely pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3 copy number gain See cases [RCV000510290] Chr19:55549385..57489784 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
NM_003283.6(TNNT1):c.24A>G (p.Glu8=) single nucleotide variant not specified [RCV000615706] Chr19:55147134 [GRCh38]
Chr19:55658502 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.310-4C>A single nucleotide variant not specified [RCV000610330] Chr19:55140964 [GRCh38]
Chr19:55652332 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-11_388-8del deletion Nemaline myopathy 5 [RCV000641946] Chr19:55138082..55138085 [GRCh38]
Chr19:55649450..55649453 [GRCh37]
Chr19:19q13.42
likely benign|uncertain significance
NM_003283.6(TNNT1):c.501+18_501+19del deletion not specified [RCV000614009] Chr19:55137942..55137943 [GRCh38]
Chr19:55649310..55649311 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.46G>C (p.Glu16Gln) single nucleotide variant Nemaline myopathy 5 [RCV000641954]|not specified [RCV000608751] Chr19:55147008 [GRCh38]
Chr19:55658376 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp) single nucleotide variant Nemaline myopathy 5 [RCV000531999] Chr19:55137179 [GRCh38]
Chr19:55648547 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg) single nucleotide variant Nemaline myopathy 5 [RCV000641950] Chr19:55133890 [GRCh38]
Chr19:55645258 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.10:g.(?_55140863)_(55141322_?)del deletion Nemaline myopathy 5 [RCV000641955] Chr19:55140863..55141322 [GRCh38]
Chr19:55652231..55652690 [GRCh37]
Chr19:19q13.42
uncertain significance
GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3 copy number gain not provided [RCV000684091] Chr19:53867570..55833460 [GRCh37]
Chr19:19q13.42
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 copy number gain not provided [RCV000684095] Chr19:54196216..58759679 [GRCh37]
Chr19:19q13.42-13.43
pathogenic
NM_003283.6(TNNT1):c.502-2A>G single nucleotide variant Nemaline myopathy 5 [RCV000689648] Chr19:55137214 [GRCh38]
Chr19:55648582 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.508C>G (p.Gln170Glu) single nucleotide variant Nemaline myopathy 5 [RCV000704280] Chr19:55137206 [GRCh38]
Chr19:55648574 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.11C>T (p.Thr4Ile) single nucleotide variant Nemaline myopathy 5 [RCV000695374] Chr19:55147147 [GRCh38]
Chr19:55658515 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.515G>A (p.Arg172His) single nucleotide variant Nemaline myopathy 5 [RCV000695463] Chr19:55137199 [GRCh38]
Chr19:55648567 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.10:g.(?_55140863)_(55147177_?)del deletion Nemaline myopathy 5 [RCV000708173] Chr19:55140863..55147177 [GRCh38]
Chr19:55652231..55658545 [GRCh37]
Chr19:19q13.42
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_003283.6(TNNT1):c.309+1G>A single nucleotide variant Nemaline myopathy 5 [RCV003230283]|not provided [RCV001529807] Chr19:55141185 [GRCh38]
Chr19:55652553 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.*160C>G single nucleotide variant not provided [RCV001533936] Chr19:55132755 [GRCh38]
Chr19:55644123 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.612-216G>A single nucleotide variant not provided [RCV001545811] Chr19:55134420 [GRCh38]
Chr19:55645788 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.345C>A (p.Arg115=) single nucleotide variant Nemaline myopathy 5 [RCV001424766] Chr19:55140925 [GRCh38]
Chr19:55652293 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln) single nucleotide variant Nemaline myopathy 5 [RCV001061613] Chr19:55137103 [GRCh38]
Chr19:55648471 [GRCh37]
Chr19:19q13.42
uncertain significance
GRCh37/hg19 19q13.42(chr19:55652193-55665240) copy number loss Nemaline myopathy 5 [RCV000767680] Chr19:55652193..55665240 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.562G>A (p.Glu188Lys) single nucleotide variant Nemaline myopathy 5 [RCV001051611] Chr19:55137152 [GRCh38]
Chr19:55648520 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.10:g.(?_55140873)_(55151927_?)del deletion Hypertrophic cardiomyopathy [RCV001031103] Chr19:55652241..55663295 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.33-7T>G single nucleotide variant Nemaline myopathy 5 [RCV001040022] Chr19:55147028 [GRCh38]
Chr19:55658396 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.33-5C>T single nucleotide variant Nemaline myopathy 5 [RCV000800388] Chr19:55147026 [GRCh38]
Chr19:55658394 [GRCh37]
Chr19:19q13.42
likely benign|uncertain significance
NM_003283.6(TNNT1):c.87G>A (p.Pro29=) single nucleotide variant Nemaline myopathy 5 [RCV000873839]|not provided [RCV003411859] Chr19:55146453 [GRCh38]
Chr19:55657821 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.73+10C>G single nucleotide variant Nemaline myopathy 5 [RCV001461292] Chr19:55146671 [GRCh38]
Chr19:55658039 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.486C>T (p.Gly162=) single nucleotide variant Nemaline myopathy 5 [RCV001406964] Chr19:55137976 [GRCh38]
Chr19:55649344 [GRCh37]
Chr19:19q13.42
likely benign
NC_000019.10:g.55145673C>A single nucleotide variant not provided [RCV000831842] Chr19:55657041 [GRCh37]
Chr19:19q13.42
benign
NC_000019.10:g.55133238G>T single nucleotide variant not provided [RCV000827942] Chr19:55644606 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.387G>A (p.Ala129=) single nucleotide variant Nemaline myopathy 5 [RCV000817321] Chr19:55140883 [GRCh38]
Chr19:55652251 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.388-260C>G single nucleotide variant not provided [RCV000831998] Chr19:55138334 [GRCh38]
Chr19:55649702 [GRCh37]
Chr19:19q13.42
benign
NC_000019.10:g.55141344G>C single nucleotide variant not provided [RCV000832020] Chr19:55652712 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr) single nucleotide variant Nemaline myopathy 5 [RCV000813479] Chr19:55134185 [GRCh38]
Chr19:55645553 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.16G>A (p.Glu6Lys) single nucleotide variant Nemaline myopathy 5 [RCV000807626] Chr19:55147142 [GRCh38]
Chr19:55658510 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.10:g.55133074G>A single nucleotide variant not provided [RCV000829380] Chr19:55644442 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.106+7G>A single nucleotide variant Nemaline myopathy 5 [RCV000959831] Chr19:55146427 [GRCh38]
Chr19:55657795 [GRCh37]
Chr19:19q13.42
likely benign
NC_000019.9:g.(?_55644273)_(55768277_?)dup duplication Hypertrophic cardiomyopathy [RCV000803281]|Nemaline myopathy 5 [RCV001319583] Chr19:55132905..55256909 [GRCh38]
Chr19:55644273..55768277 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.200A>C (p.His67Pro) single nucleotide variant Nemaline myopathy 5 [RCV000791771] Chr19:55141295 [GRCh38]
Chr19:55652663 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.47-92C>G single nucleotide variant not provided [RCV000829913] Chr19:55146799 [GRCh38]
Chr19:55658167 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.106+67G>A single nucleotide variant not provided [RCV000833748] Chr19:55146367 [GRCh38]
Chr19:55657735 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.193-174T>A single nucleotide variant not provided [RCV000833749] Chr19:55141476 [GRCh38]
Chr19:55652844 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.501+71C>T single nucleotide variant not provided [RCV000837994] Chr19:55137890 [GRCh38]
Chr19:55649258 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys) single nucleotide variant Nemaline myopathy 5 [RCV000799409] Chr19:55133914 [GRCh38]
Chr19:55645282 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.10:g.(?_55140873)_(55147167_?)del deletion Nemaline myopathy 5 [RCV000817940] Chr19:55140873..55147167 [GRCh38]
Chr19:55652241..55658535 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.107-136A>T single nucleotide variant not provided [RCV000831536] Chr19:55145701 [GRCh38]
Chr19:55657069 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.157C>T (p.Pro53Ser) single nucleotide variant Nemaline myopathy 5 [RCV000798563] Chr19:55141892 [GRCh38]
Chr19:55653260 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.-11-161T>C single nucleotide variant not provided [RCV000829516] Chr19:55147329 [GRCh38]
Chr19:55658697 [GRCh37]
Chr19:19q13.42
benign
NC_000019.10:g.(?_55140863)_(55151937_?)del deletion Nemaline myopathy 5 [RCV000806573] Chr19:55140863..55151937 [GRCh38]
Chr19:55652231..55663305 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser) single nucleotide variant Inborn genetic diseases [RCV002558289]|Nemaline myopathy 5 [RCV001134780] Chr19:55137975 [GRCh38]
Chr19:55649343 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.530C>T (p.Thr177Met) single nucleotide variant Nemaline myopathy 5 [RCV000792243] Chr19:55137184 [GRCh38]
Chr19:55648552 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.10:g.55141390A>G single nucleotide variant not provided [RCV000829377] Chr19:55652758 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.502-177A>G single nucleotide variant not provided [RCV000829379] Chr19:55137389 [GRCh38]
Chr19:55648757 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.139G>A (p.Val47Met) single nucleotide variant Nemaline myopathy 5 [RCV000821380] Chr19:55141910 [GRCh38]
Chr19:55653278 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.612-228A>G single nucleotide variant not provided [RCV000837191] Chr19:55134432 [GRCh38]
Chr19:55645800 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-151T>G single nucleotide variant not provided [RCV000829378] Chr19:55138225 [GRCh38]
Chr19:55649593 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.-11-156C>G single nucleotide variant not provided [RCV000829517] Chr19:55147324 [GRCh38]
Chr19:55658692 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.129-5C>G single nucleotide variant Nemaline myopathy 5 [RCV000809733] Chr19:55141925 [GRCh38]
Chr19:55653293 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.47-147A>G single nucleotide variant not provided [RCV000829912] Chr19:55146854 [GRCh38]
Chr19:55658222 [GRCh37]
Chr19:19q13.42
benign
NC_000019.10:g.55136902G>A single nucleotide variant not provided [RCV000829931] Chr19:55648270 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.387+152G>A single nucleotide variant not provided [RCV000839190] Chr19:55140731 [GRCh38]
Chr19:55652099 [GRCh37]
Chr19:19q13.42
likely benign
GRCh37/hg19 19q13.42(chr19:55508564-55665523)x3 copy number gain not provided [RCV000849140] Chr19:55508564..55665523 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg) single nucleotide variant Nemaline myopathy 5 [RCV001202933] Chr19:55137145 [GRCh38]
Chr19:55648513 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.32+4A>T single nucleotide variant Nemaline myopathy 5 [RCV001224737] Chr19:55147122 [GRCh38]
Chr19:55658490 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys) single nucleotide variant Nemaline myopathy 5 [RCV001220902] Chr19:55137164 [GRCh38]
Chr19:55648532 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.695dup (p.Leu233fs) duplication Nemaline myopathy 5 [RCV001220490] Chr19:55134120..55134121 [GRCh38]
Chr19:55645488..55645489 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly) single nucleotide variant Nemaline myopathy 5 [RCV001218001] Chr19:55141211 [GRCh38]
Chr19:55652579 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr) single nucleotide variant Nemaline myopathy 5 [RCV001210215] Chr19:55141187 [GRCh38]
Chr19:55652555 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.256T>C (p.Phe86Leu) single nucleotide variant Inborn genetic diseases [RCV003273485] Chr19:55141239 [GRCh38]
Chr19:55652607 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.739C>T (p.Gln247Ter) single nucleotide variant not provided [RCV001092521] Chr19:55134077 [GRCh38]
Chr19:55645445 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg) single nucleotide variant Nemaline myopathy 5 [RCV001065128] Chr19:55134163 [GRCh38]
Chr19:55645531 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.9:g.(?_55644283)_(55678016_?)del deletion Primary ciliary dyskinesia [RCV003105722] Chr19:55644283..55678016 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.287T>C (p.Leu96Pro) single nucleotide variant Nemaline myopathy 5B, autosomal recessive, childhood-onset [RCV003230314] Chr19:55141208 [GRCh38]
Chr19:55652576 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.194A>C (p.Asp65Ala) single nucleotide variant Nemaline myopathy 5C, autosomal dominant [RCV003230316] Chr19:55141301 [GRCh38]
Chr19:55652669 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.401G>A (p.Arg134Lys) single nucleotide variant Nemaline myopathy 5 [RCV003106868] Chr19:55138061 [GRCh38]
Chr19:55649429 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.-11-250A>G single nucleotide variant not provided [RCV001571594] Chr19:55147418 [GRCh38]
Chr19:55658786 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-296G>A single nucleotide variant not provided [RCV001577414] Chr19:55138370 [GRCh38]
Chr19:55649738 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.310-105T>A single nucleotide variant not provided [RCV001548119] Chr19:55141065 [GRCh38]
Chr19:55652433 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.502-199C>G single nucleotide variant not provided [RCV001555623] Chr19:55137411 [GRCh38]
Chr19:55648779 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.387+280G>T single nucleotide variant not provided [RCV001555632] Chr19:55140603 [GRCh38]
Chr19:55651971 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.192+97T>C single nucleotide variant not provided [RCV001611259] Chr19:55141760 [GRCh38]
Chr19:55653128 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.501+308G>A single nucleotide variant not provided [RCV001650095] Chr19:55137653 [GRCh38]
Chr19:55649021 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.792-214A>C single nucleotide variant not provided [RCV001589625] Chr19:55133174 [GRCh38]
Chr19:55644542 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-221_388-219dup duplication not provided [RCV001614077] Chr19:55138280..55138281 [GRCh38]
Chr19:55649648..55649649 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.751-42G>A single nucleotide variant not provided [RCV001719415] Chr19:55133969 [GRCh38]
Chr19:55645337 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.192+74C>T single nucleotide variant not provided [RCV001719454] Chr19:55141783 [GRCh38]
Chr19:55653151 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.792-243C>T single nucleotide variant not provided [RCV001559750] Chr19:55133203 [GRCh38]
Chr19:55644571 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.561C>T (p.Ser187=) single nucleotide variant Nemaline myopathy 5 [RCV000928395] Chr19:55137153 [GRCh38]
Chr19:55648521 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.102G>A (p.Glu34=) single nucleotide variant Nemaline myopathy 5 [RCV001395301] Chr19:55146438 [GRCh38]
Chr19:55657806 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.834G>A (p.Lys278=) single nucleotide variant Nemaline myopathy 5 [RCV002547226] Chr19:55132918 [GRCh38]
Chr19:55644286 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met) single nucleotide variant Nemaline myopathy 5 [RCV001203191] Chr19:55137129 [GRCh38]
Chr19:55648497 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys) single nucleotide variant Nemaline myopathy 5 [RCV001244782]|not provided [RCV001760280] Chr19:55147132 [GRCh38]
Chr19:55658500 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile) single nucleotide variant Nemaline myopathy 5 [RCV001236614] Chr19:55134093 [GRCh38]
Chr19:55645461 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.366C>T (p.Arg122=) single nucleotide variant Nemaline myopathy 5 [RCV001134781] Chr19:55140904 [GRCh38]
Chr19:55652272 [GRCh37]
Chr19:19q13.42
conflicting interpretations of pathogenicity|uncertain significance
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) single nucleotide variant Nemaline myopathy 5 [RCV001209655]|Nemaline myopathy 5C, autosomal dominant [RCV003230280] Chr19:55140959 [GRCh38]
Chr19:55652327 [GRCh37]
Chr19:19q13.42
pathogenic|uncertain significance
NM_003283.6(TNNT1):c.107-112C>G single nucleotide variant not provided [RCV001551162] Chr19:55145677 [GRCh38]
Chr19:55657045 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.309+79G>A single nucleotide variant not provided [RCV001562814] Chr19:55141107 [GRCh38]
Chr19:55652475 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.792-111G>T single nucleotide variant not provided [RCV001570312] Chr19:55133071 [GRCh38]
Chr19:55644439 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter) single nucleotide variant Nemaline myopathy 5 [RCV003230312] Chr19:55147142 [GRCh38]
Chr19:55658510 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.387+165T>G single nucleotide variant not provided [RCV001557979] Chr19:55140718 [GRCh38]
Chr19:55652086 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter) insertion Nemaline myopathy 5 [RCV000991409] Chr19:55137107..55137108 [GRCh38]
Chr19:55648475..55648476 [GRCh37]
Chr19:19q13.42
pathogenic|likely pathogenic
NM_003283.6(TNNT1):c.791+206T>A single nucleotide variant not provided [RCV001559443] Chr19:55133681 [GRCh38]
Chr19:55645049 [GRCh37]
Chr19:19q13.42
likely benign
NC_000019.10:g.(?_55132793)_(55132961_55133886)del deletion Nemaline myopathy 5 [RCV003230310]   pathogenic
NM_003283.6(TNNT1):c.129-269G>A single nucleotide variant not provided [RCV001547127] Chr19:55142189 [GRCh38]
Chr19:55653557 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-267C>T single nucleotide variant not provided [RCV001671427] Chr19:55138341 [GRCh38]
Chr19:55649709 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.192+207T>A single nucleotide variant not provided [RCV001723181] Chr19:55141650 [GRCh38]
Chr19:55653018 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.387+74_387+75insATTATG insertion not provided [RCV001636199] Chr19:55140808..55140809 [GRCh38]
Chr19:55652176..55652177 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.-11-235C>T single nucleotide variant not provided [RCV001638800] Chr19:55147403 [GRCh38]
Chr19:55658771 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.791+192dup duplication not provided [RCV001723085] Chr19:55133680..55133681 [GRCh38]
Chr19:55645048..55645049 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.129-231A>G single nucleotide variant not provided [RCV001719412] Chr19:55142151 [GRCh38]
Chr19:55653519 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.193-24A>C single nucleotide variant not provided [RCV001581328] Chr19:55141326 [GRCh38]
Chr19:55652694 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.791+206del deletion not provided [RCV001656251] Chr19:55133681 [GRCh38]
Chr19:55645049 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.388-221dup duplication not provided [RCV001677181] Chr19:55138280..55138281 [GRCh38]
Chr19:55649648..55649649 [GRCh37]
Chr19:19q13.42
benign
NC_000019.10:g.55132607C>G single nucleotide variant not provided [RCV001586165] Chr19:55132607 [GRCh38]
Chr19:55643975 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.193-218dup duplication not provided [RCV001589734] Chr19:55141505..55141506 [GRCh38]
Chr19:55652873..55652874 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.501+284T>C single nucleotide variant not provided [RCV001545576] Chr19:55137677 [GRCh38]
Chr19:55649045 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr) single nucleotide variant Nemaline myopathy 5 [RCV001129796] Chr19:55146681 [GRCh38]
Chr19:55658049 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys) single nucleotide variant Nemaline myopathy 5 [RCV001230480] Chr19:55141293 [GRCh38]
Chr19:55652661 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.*129C>G single nucleotide variant Nemaline myopathy 5 [RCV001132387] Chr19:55132786 [GRCh38]
Chr19:55644154 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val) single nucleotide variant Nemaline myopathy 5 [RCV001236398] Chr19:55138002 [GRCh38]
Chr19:55649370 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn) single nucleotide variant Nemaline myopathy 5 [RCV001236473] Chr19:55134105 [GRCh38]
Chr19:55645473 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.370C>T (p.Arg124Cys) single nucleotide variant Nemaline myopathy 5 [RCV001071871] Chr19:55140900 [GRCh38]
Chr19:55652268 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.*110T>C single nucleotide variant Nemaline myopathy 5 [RCV001132388] Chr19:55132805 [GRCh38]
Chr19:55644173 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.387+5G>A single nucleotide variant Nemaline myopathy 5 [RCV001063603] Chr19:55140878 [GRCh38]
Chr19:55652246 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.452del (p.Lys151fs) deletion Nemaline myopathy 5 [RCV001257203] Chr19:55138010 [GRCh38]
Chr19:55649378 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.353del (p.Thr118fs) deletion Nemaline myopathy 5 [RCV001260949] Chr19:55140917 [GRCh38]
Chr19:55652285 [GRCh37]
Chr19:19q13.42
pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 copy number gain not provided [RCV001259948] Chr19:54334195..56434037 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_003283.6(TNNT1):c.263A>G (p.Gln88Arg) single nucleotide variant Nemaline myopathy 5 [RCV001991068] Chr19:55141232 [GRCh38]
Chr19:55652600 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.46G>A (p.Glu16Lys) single nucleotide variant Nemaline myopathy 5 [RCV001998844] Chr19:55147008 [GRCh38]
Chr19:55658376 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.612-288G>T single nucleotide variant not provided [RCV001539317] Chr19:55134492 [GRCh38]
Chr19:55645860 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.1A>G (p.Met1Val) single nucleotide variant Nemaline myopathy 5 [RCV001260948] Chr19:55147157 [GRCh38]
Chr19:55658525 [GRCh37]
Chr19:19q13.42
likely pathogenic
NC_000019.9:g.(?_55644273)_(55768277_?)dup duplication Hypertrophic cardiomyopathy [RCV001322292]|Nemaline myopathy 5 [RCV001319583] Chr19:55644273..55768277 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.309+6C>T single nucleotide variant Nemaline myopathy 5 [RCV001314655] Chr19:55141180 [GRCh38]
Chr19:55652548 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.-12+102G>C single nucleotide variant not provided [RCV001786739] Chr19:55149059 [GRCh38]
Chr19:55660427 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.33-4G>A single nucleotide variant Nemaline myopathy 5 [RCV001433303] Chr19:55147025 [GRCh38]
Chr19:55658393 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.77C>A (p.Pro26His) single nucleotide variant Nemaline myopathy 5 [RCV001319849] Chr19:55146463 [GRCh38]
Chr19:55657831 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys) single nucleotide variant Nemaline myopathy 5 [RCV001329674] Chr19:55132926 [GRCh38]
Chr19:55644294 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn) single nucleotide variant Nemaline myopathy 5 [RCV001307668] Chr19:55141288 [GRCh38]
Chr19:55652656 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.106+4A>G single nucleotide variant not provided [RCV001311911] Chr19:55146430 [GRCh38]
Chr19:55657798 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp) single nucleotide variant Nemaline myopathy 5 [RCV001296511] Chr19:55147153 [GRCh38]
Chr19:55658521 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.136G>A (p.Val46Met) single nucleotide variant Nemaline myopathy 5 [RCV001322477] Chr19:55141913 [GRCh38]
Chr19:55653281 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.9:g.(?_55652231)_(55652690_?)del deletion Nemaline myopathy 5 [RCV001304615] Chr19:55652231..55652690 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.116G>A (p.Arg39His) single nucleotide variant Nemaline myopathy 5 [RCV001350671] Chr19:55145556 [GRCh38]
Chr19:55656924 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.409G>A (p.Glu137Lys) single nucleotide variant Nemaline myopathy 5 [RCV001323758] Chr19:55138053 [GRCh38]
Chr19:55649421 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.617G>A (p.Arg206Gln) single nucleotide variant Nemaline myopathy 5 [RCV001421531] Chr19:55134199 [GRCh38]
Chr19:55645567 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.310-8T>A single nucleotide variant Nemaline myopathy 5 [RCV001371409] Chr19:55140968 [GRCh38]
Chr19:55652336 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.183T>G (p.Val61=) single nucleotide variant Nemaline myopathy 5 [RCV001486630] Chr19:55141866 [GRCh38]
Chr19:55653234 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.219A>G (p.Lys73=) single nucleotide variant Nemaline myopathy 5 [RCV001455722] Chr19:55141276 [GRCh38]
Chr19:55652644 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.714C>T (p.Phe238=) single nucleotide variant Nemaline myopathy 5 [RCV001488532] Chr19:55134102 [GRCh38]
Chr19:55645470 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.501+1G>A single nucleotide variant Nemaline myopathy 5 [RCV001377635] Chr19:55137960 [GRCh38]
Chr19:55649328 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.295T>C (p.Leu99=) single nucleotide variant Nemaline myopathy 5 [RCV001448774] Chr19:55141200 [GRCh38]
Chr19:55652568 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.74-5C>T single nucleotide variant Nemaline myopathy 5 [RCV001407879] Chr19:55146471 [GRCh38]
Chr19:55657839 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.585T>C (p.Ile195=) single nucleotide variant Nemaline myopathy 5 [RCV001438775] Chr19:55137129 [GRCh38]
Chr19:55648497 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.309+8G>C single nucleotide variant Nemaline myopathy 5 [RCV001440393] Chr19:55141178 [GRCh38]
Chr19:55652546 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.78C>G (p.Pro26=) single nucleotide variant Nemaline myopathy 5 [RCV001447650] Chr19:55146462 [GRCh38]
Chr19:55657830 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.611+10G>A single nucleotide variant Nemaline myopathy 5 [RCV001502340] Chr19:55137093 [GRCh38]
Chr19:55648461 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.612-4C>T single nucleotide variant Nemaline myopathy 5 [RCV001479220] Chr19:55134208 [GRCh38]
Chr19:55645576 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.129-240T>C single nucleotide variant not provided [RCV001669323] Chr19:55142160 [GRCh38]
Chr19:55653528 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.107-282G>T single nucleotide variant not provided [RCV001586621] Chr19:55145847 [GRCh38]
Chr19:55657215 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.756C>T (p.Asn252=) single nucleotide variant Nemaline myopathy 5 [RCV001460418] Chr19:55133922 [GRCh38]
Chr19:55645290 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.199C>T (p.His67Tyr) single nucleotide variant not provided [RCV001756332] Chr19:55141296 [GRCh38]
Chr19:55652664 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.611+1dup duplication Nemaline myopathy 5 [RCV001783882] Chr19:55137101..55137102 [GRCh38]
Chr19:55648469..55648470 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.-12+99G>A single nucleotide variant not provided [RCV001786834] Chr19:55149062 [GRCh38]
Chr19:55660430 [GRCh37]
Chr19:19q13.42
likely benign
NC_000019.10:g.55149223_55149224insA insertion not provided [RCV001786913] Chr19:55149223..55149224 [GRCh38]
Chr19:55660591..55660592 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.-12+224C>T single nucleotide variant not provided [RCV001786942] Chr19:55148937 [GRCh38]
Chr19:55660305 [GRCh37]
Chr19:19q13.42
likely benign
NC_000019.10:g.55149294A>G single nucleotide variant not provided [RCV001787637] Chr19:55149294 [GRCh38]
Chr19:55660662 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.78del (p.Glu27fs) deletion Nemaline myopathy 5 [RCV002037641] Chr19:55146462 [GRCh38]
Chr19:55657830 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.71A>G (p.Glu24Gly) single nucleotide variant Nemaline myopathy 5 [RCV002040512] Chr19:55146683 [GRCh38]
Chr19:55658051 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.565C>T (p.Arg189Cys) single nucleotide variant Nemaline myopathy 5 [RCV002042039] Chr19:55137149 [GRCh38]
Chr19:55648517 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.641A>G (p.Gln214Arg) single nucleotide variant Nemaline myopathy 5 [RCV002050197] Chr19:55134175 [GRCh38]
Chr19:55645543 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu) single nucleotide variant Nemaline myopathy 5 [RCV002005744] Chr19:55137132 [GRCh38]
Chr19:55648500 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.658A>T (p.Arg220Trp) single nucleotide variant Nemaline myopathy 5 [RCV002023602] Chr19:55134158 [GRCh38]
Chr19:55645526 [GRCh37]
Chr19:19q13.42
uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1 copy number loss not provided [RCV001834407] Chr19:55247893..56503347 [GRCh37]
Chr19:19q13.42-13.43
likely pathogenic
NM_003283.6(TNNT1):c.612-14G>A single nucleotide variant Nemaline myopathy 5 [RCV002004280] Chr19:55134218 [GRCh38]
Chr19:55645586 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.387+1G>A single nucleotide variant Nemaline myopathy 5 [RCV002022273] Chr19:55140882 [GRCh38]
Chr19:55652250 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.793C>T (p.Arg265Trp) single nucleotide variant Nemaline myopathy 5 [RCV002025717] Chr19:55132959 [GRCh38]
Chr19:55644327 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.644C>T (p.Pro215Leu) single nucleotide variant Nemaline myopathy 5 [RCV002010879] Chr19:55134172 [GRCh38]
Chr19:55645540 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.256T>G (p.Phe86Val) single nucleotide variant Nemaline myopathy 5 [RCV002043177] Chr19:55141239 [GRCh38]
Chr19:55652607 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.700G>A (p.Glu234Lys) single nucleotide variant Nemaline myopathy 5 [RCV002049639] Chr19:55134116 [GRCh38]
Chr19:55645484 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.536G>A (p.Arg179Gln) single nucleotide variant Nemaline myopathy 5 [RCV002048368] Chr19:55137178 [GRCh38]
Chr19:55648546 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.304C>A (p.Arg102Ser) single nucleotide variant Nemaline myopathy 5 [RCV001989159] Chr19:55141191 [GRCh38]
Chr19:55652559 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.815G>A (p.Arg272His) single nucleotide variant Nemaline myopathy 5 [RCV001908972] Chr19:55132937 [GRCh38]
Chr19:55644305 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.94G>T (p.Val32Leu) single nucleotide variant Nemaline myopathy 5 [RCV001978191] Chr19:55146446 [GRCh38]
Chr19:55657814 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.9:g.(?_55652231)_(55658525_?)del deletion Nemaline myopathy 5 [RCV001950794] Chr19:55652231..55658525 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.551G>A (p.Arg184His) single nucleotide variant Nemaline myopathy 5 [RCV001894871] Chr19:55137163 [GRCh38]
Chr19:55648531 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.9:g.(?_55652544)_(55656943_?)del deletion Nemaline myopathy 5 [RCV001926033] Chr19:55652544..55656943 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.73+6G>A single nucleotide variant Nemaline myopathy 5 [RCV001955621] Chr19:55146675 [GRCh38]
Chr19:55658043 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.769C>T (p.Arg257Cys) single nucleotide variant Nemaline myopathy 5 [RCV001929005] Chr19:55133909 [GRCh38]
Chr19:55645277 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter) single nucleotide variant Nemaline myopathy 5 [RCV001972397] Chr19:55138047 [GRCh38]
Chr19:55649415 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.320G>A (p.Arg107Gln) single nucleotide variant Nemaline myopathy 5 [RCV001979682] Chr19:55140950 [GRCh38]
Chr19:55652318 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.10:g.55149387_55149388insT insertion not provided [RCV002034792] Chr19:55149387..55149388 [GRCh38]
Chr19:55660755..55660756 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.81A>T (p.Glu27Asp) single nucleotide variant Nemaline myopathy 5 [RCV001978740] Chr19:55146459 [GRCh38]
Chr19:55657827 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.128+5G>A single nucleotide variant Nemaline myopathy 5 [RCV001935931] Chr19:55145539 [GRCh38]
Chr19:55656907 [GRCh37]
Chr19:19q13.42
uncertain significance
NC_000019.9:g.(?_54297303)_(55678016_?)dup duplication not provided [RCV001981426] Chr19:54297303..55678016 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.89A>T (p.Glu30Val) single nucleotide variant Nemaline myopathy 5 [RCV001922519] Chr19:55146451 [GRCh38]
Chr19:55657819 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.647C>G (p.Ser216Cys) single nucleotide variant Inborn genetic diseases [RCV002569232]|Nemaline myopathy 5 [RCV001959247] Chr19:55134169 [GRCh38]
Chr19:55645537 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.554T>C (p.Ile185Thr) single nucleotide variant Nemaline myopathy 5 [RCV001906387] Chr19:55137160 [GRCh38]
Chr19:55648528 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.319C>T (p.Arg107Trp) single nucleotide variant Nemaline myopathy 5 [RCV001887786] Chr19:55140951 [GRCh38]
Chr19:55652319 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.592A>G (p.Met198Val) single nucleotide variant Nemaline myopathy 5 [RCV001944996] Chr19:55137122 [GRCh38]
Chr19:55648490 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.616C>T (p.Arg206Trp) single nucleotide variant Nemaline myopathy 5 [RCV001917217] Chr19:55134200 [GRCh38]
Chr19:55645568 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.817G>A (p.Val273Ile) single nucleotide variant Nemaline myopathy 5 [RCV001954549] Chr19:55132935 [GRCh38]
Chr19:55644303 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.310-9G>T single nucleotide variant Nemaline myopathy 5 [RCV002107262] Chr19:55140969 [GRCh38]
Chr19:55652337 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.47-9C>T single nucleotide variant Nemaline myopathy 5 [RCV002125462] Chr19:55146716 [GRCh38]
Chr19:55658084 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.128+9C>T single nucleotide variant Nemaline myopathy 5 [RCV002110486] Chr19:55145535 [GRCh38]
Chr19:55656903 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.751-4G>A single nucleotide variant Nemaline myopathy 5 [RCV002207519] Chr19:55133931 [GRCh38]
Chr19:55645299 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.501+16G>A single nucleotide variant Nemaline myopathy 5 [RCV002111116] Chr19:55137945 [GRCh38]
Chr19:55649313 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.32+12A>G single nucleotide variant Nemaline myopathy 5 [RCV002126769] Chr19:55147114 [GRCh38]
Chr19:55658482 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-9T>C single nucleotide variant Nemaline myopathy 5 [RCV002147630] Chr19:55138083 [GRCh38]
Chr19:55649451 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.193-6C>T single nucleotide variant Nemaline myopathy 5 [RCV002169720] Chr19:55141308 [GRCh38]
Chr19:55652676 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.33-15C>G single nucleotide variant Nemaline myopathy 5 [RCV002104554] Chr19:55147036 [GRCh38]
Chr19:55658404 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.192+18C>G single nucleotide variant Nemaline myopathy 5 [RCV002195100] Chr19:55141839 [GRCh38]
Chr19:55653207 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.129-6A>C single nucleotide variant Nemaline myopathy 5 [RCV002173399] Chr19:55141926 [GRCh38]
Chr19:55653294 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.93G>T (p.Pro31=) single nucleotide variant Nemaline myopathy 5 [RCV002116192] Chr19:55146447 [GRCh38]
Chr19:55657815 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.747T>C (p.Tyr249=) single nucleotide variant Nemaline myopathy 5 [RCV002113856] Chr19:55134069 [GRCh38]
Chr19:55645437 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.309+18G>A single nucleotide variant Nemaline myopathy 5 [RCV002113862] Chr19:55141168 [GRCh38]
Chr19:55652536 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.750+16G>A single nucleotide variant Nemaline myopathy 5 [RCV002212530] Chr19:55134050 [GRCh38]
Chr19:55645418 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.751-16T>A single nucleotide variant Nemaline myopathy 5 [RCV002076890] Chr19:55133943 [GRCh38]
Chr19:55645311 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.791+13G>A single nucleotide variant Nemaline myopathy 5 [RCV002132629] Chr19:55133874 [GRCh38]
Chr19:55645242 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.73+16C>G single nucleotide variant Nemaline myopathy 5 [RCV002152319] Chr19:55146665 [GRCh38]
Chr19:55658033 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.107-14C>G single nucleotide variant Nemaline myopathy 5 [RCV002078805] Chr19:55145579 [GRCh38]
Chr19:55656947 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.107-9C>A single nucleotide variant Nemaline myopathy 5 [RCV002080088] Chr19:55145574 [GRCh38]
Chr19:55656942 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.804A>G (p.Ala268=) single nucleotide variant Nemaline myopathy 5 [RCV002091402] Chr19:55132948 [GRCh38]
Chr19:55644316 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.74-8dup duplication Nemaline myopathy 5 [RCV002085896] Chr19:55146473..55146474 [GRCh38]
Chr19:55657841..55657842 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.107-11A>C single nucleotide variant Nemaline myopathy 5 [RCV002085897] Chr19:55145576 [GRCh38]
Chr19:55656944 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.681G>A (p.Ser227=) single nucleotide variant Nemaline myopathy 5 [RCV002126679] Chr19:55134135 [GRCh38]
Chr19:55645503 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.12C>G (p.Thr4=) single nucleotide variant Nemaline myopathy 5 [RCV002112236] Chr19:55147146 [GRCh38]
Chr19:55658514 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.387+14C>T single nucleotide variant Nemaline myopathy 5 [RCV002137394] Chr19:55140869 [GRCh38]
Chr19:55652237 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.502-17G>A single nucleotide variant Nemaline myopathy 5 [RCV002141431] Chr19:55137229 [GRCh38]
Chr19:55648597 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.804A>C (p.Ala268=) single nucleotide variant Nemaline myopathy 5 [RCV002160554] Chr19:55132948 [GRCh38]
Chr19:55644316 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.107-16C>A single nucleotide variant Nemaline myopathy 5 [RCV002160791] Chr19:55145581 [GRCh38]
Chr19:55656949 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.558C>G (p.Leu186=) single nucleotide variant Nemaline myopathy 5 [RCV002083217] Chr19:55137156 [GRCh38]
Chr19:55648524 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-5C>T single nucleotide variant Nemaline myopathy 5 [RCV002203551] Chr19:55138079 [GRCh38]
Chr19:55649447 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.816C>T (p.Arg272=) single nucleotide variant Nemaline myopathy 5 [RCV002183620] Chr19:55132936 [GRCh38]
Chr19:55644304 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.174G>A (p.Gly58=) single nucleotide variant Nemaline myopathy 5 [RCV002201564] Chr19:55141875 [GRCh38]
Chr19:55653243 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.106+18G>C single nucleotide variant Nemaline myopathy 5 [RCV003111802] Chr19:55146416 [GRCh38]
Chr19:55657784 [GRCh37]
Chr19:19q13.42
likely benign
NC_000019.9:g.(?_55644283)_(55668957_?)dup duplication Nemaline myopathy 5 [RCV003113249] Chr19:55644283..55668957 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro) single nucleotide variant Nemaline myopathy 5 [RCV003115710]|not provided [RCV003481449] Chr19:55134197 [GRCh38]
Chr19:55645565 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.726G>A (p.Ala242=) single nucleotide variant Nemaline myopathy 5 [RCV003115797] Chr19:55134090 [GRCh38]
Chr19:55645458 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-1G>A single nucleotide variant not provided [RCV002246201] Chr19:55138075 [GRCh38]
Chr19:55649443 [GRCh37]
Chr19:19q13.42
not provided
NM_003283.6(TNNT1):c.310-5C>A single nucleotide variant Myopathy [RCV002259414] Chr19:55140965 [GRCh38]
Chr19:55652333 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.611+1G>A single nucleotide variant Nemaline myopathy 5B, autosomal recessive, childhood-onset [RCV003230313] Chr19:55137102 [GRCh38]
Chr19:55648470 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.724G>C (p.Ala242Pro) single nucleotide variant Nemaline myopathy 5B, autosomal recessive, childhood-onset [RCV003230315] Chr19:55134092 [GRCh38]
Chr19:55645460 [GRCh37]
Chr19:19q13.42
pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1 copy number loss not provided [RCV002279751] Chr19:55434660..56463734 [GRCh37]
Chr19:19q13.42-13.43
uncertain significance
NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys) single nucleotide variant Nemaline myopathy 5 [RCV002296927] Chr19:55134070 [GRCh38]
Chr19:55645438 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.91C>T (p.Pro31Ser) single nucleotide variant Inborn genetic diseases [RCV003299842] Chr19:55146449 [GRCh38]
Chr19:55657817 [GRCh37]
Chr19:19q13.42
uncertain significance
GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3 copy number gain not provided [RCV002473753] Chr19:55642778..55932200 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.334G>T (p.Glu112Ter) single nucleotide variant Nemaline myopathy 5 [RCV003230311] Chr19:55140936 [GRCh38]
Chr19:55652304 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro) single nucleotide variant Nemaline myopathy 5 [RCV002295655] Chr19:55140894 [GRCh38]
Chr19:55652262 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.61dup (p.Glu21fs) duplication Nemaline myopathy 5 [RCV003014820] Chr19:55146692..55146693 [GRCh38]
Chr19:55658060..55658061 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.742A>T (p.Lys248Ter) single nucleotide variant Nemaline myopathy 5 [RCV002510716] Chr19:55134074 [GRCh38]
Chr19:55645442 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.387+13C>T single nucleotide variant Nemaline myopathy 5 [RCV002991532] Chr19:55140870 [GRCh38]
Chr19:55652238 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.146C>G (p.Pro49Arg) single nucleotide variant Nemaline myopathy 5 [RCV002975035] Chr19:55141903 [GRCh38]
Chr19:55653271 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.107-10C>T single nucleotide variant Nemaline myopathy 5 [RCV003073716] Chr19:55145575 [GRCh38]
Chr19:55656943 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln) single nucleotide variant Nemaline myopathy 5 [RCV002971978] Chr19:55138034 [GRCh38]
Chr19:55649402 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter) single nucleotide variant Nemaline myopathy 5 [RCV002816118] Chr19:55134190 [GRCh38]
Chr19:55645558 [GRCh37]
Chr19:19q13.42
pathogenic
NM_003283.6(TNNT1):c.46+10G>T single nucleotide variant Nemaline myopathy 5 [RCV002907716] Chr19:55146998 [GRCh38]
Chr19:55658366 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.193-3C>T single nucleotide variant Nemaline myopathy 5 [RCV002663043] Chr19:55141305 [GRCh38]
Chr19:55652673 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.309+15C>G single nucleotide variant Nemaline myopathy 5 [RCV003080587] Chr19:55141171 [GRCh38]
Chr19:55652539 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.78C>T (p.Pro26=) single nucleotide variant Nemaline myopathy 5 [RCV002740025] Chr19:55146462 [GRCh38]
Chr19:55657830 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.123A>G (p.Lys41=) single nucleotide variant Nemaline myopathy 5 [RCV002622445] Chr19:55145549 [GRCh38]
Chr19:55656917 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.180C>T (p.Arg60=) single nucleotide variant Nemaline myopathy 5 [RCV002620583] Chr19:55141869 [GRCh38]
Chr19:55653237 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.611+11T>G single nucleotide variant Nemaline myopathy 5 [RCV003079983] Chr19:55137092 [GRCh38]
Chr19:55648460 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.193-14C>T single nucleotide variant Nemaline myopathy 5 [RCV002637782] Chr19:55141316 [GRCh38]
Chr19:55652684 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.611+20C>G single nucleotide variant Nemaline myopathy 5 [RCV003079982] Chr19:55137083 [GRCh38]
Chr19:55648451 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-3C>G single nucleotide variant Nemaline myopathy 5 [RCV003036886] Chr19:55138077 [GRCh38]
Chr19:55649445 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.327G>A (p.Glu109=) single nucleotide variant Nemaline myopathy 5 [RCV002761636] Chr19:55140943 [GRCh38]
Chr19:55652311 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.502-9dup duplication Nemaline myopathy 5 [RCV002870880] Chr19:55137220..55137221 [GRCh38]
Chr19:55648588..55648589 [GRCh37]
Chr19:19q13.42
benign
NM_003283.6(TNNT1):c.192+9C>A single nucleotide variant Nemaline myopathy 5 [RCV003078356] Chr19:55141848 [GRCh38]
Chr19:55653216 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.715G>A (p.Asp239Asn) single nucleotide variant Nemaline myopathy 5 [RCV002760291] Chr19:55134101 [GRCh38]
Chr19:55645469 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.502-18C>T single nucleotide variant Nemaline myopathy 5 [RCV002909249] Chr19:55137230 [GRCh38]
Chr19:55648598 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.309+19T>A single nucleotide variant Nemaline myopathy 5 [RCV002933435] Chr19:55141167 [GRCh38]
Chr19:55652535 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.514C>T (p.Arg172Cys) single nucleotide variant Nemaline myopathy 5 [RCV003085432] Chr19:55137200 [GRCh38]
Chr19:55648568 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.128+20G>T single nucleotide variant Nemaline myopathy 5 [RCV002918667] Chr19:55145524 [GRCh38]
Chr19:55656892 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.46+6T>C single nucleotide variant Nemaline myopathy 5 [RCV002958948] Chr19:55147002 [GRCh38]
Chr19:55658370 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.310-2A>T single nucleotide variant Nemaline myopathy 5 [RCV002851100] Chr19:55140962 [GRCh38]
Chr19:55652330 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.135C>G (p.Pro45=) single nucleotide variant Nemaline myopathy 5 [RCV002890932] Chr19:55141914 [GRCh38]
Chr19:55653282 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.115C>A (p.Arg39Ser) single nucleotide variant Nemaline myopathy 5 [RCV002958482] Chr19:55145557 [GRCh38]
Chr19:55656925 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.129-16_129-15del microsatellite Nemaline myopathy 5 [RCV002596124] Chr19:55141935..55141936 [GRCh38]
Chr19:55653303..55653304 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.589T>G (p.Tyr197Asp) single nucleotide variant Nemaline myopathy 5 [RCV002740600] Chr19:55137125 [GRCh38]
Chr19:55648493 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.336G>A (p.Glu112=) single nucleotide variant Nemaline myopathy 5 [RCV002624562] Chr19:55140934 [GRCh38]
Chr19:55652302 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.799G>C (p.Gly267Arg) single nucleotide variant Nemaline myopathy 5 [RCV002711691] Chr19:55132953 [GRCh38]
Chr19:55644321 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.573G>T (p.Lys191Asn) single nucleotide variant Nemaline myopathy 5 [RCV003042657] Chr19:55137141 [GRCh38]
Chr19:55648509 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.531G>A (p.Thr177=) single nucleotide variant Nemaline myopathy 5 [RCV002602678] Chr19:55137183 [GRCh38]
Chr19:55648551 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.192T>G (p.Asp64Glu) single nucleotide variant Nemaline myopathy 5 [RCV003044345] Chr19:55141857 [GRCh38]
Chr19:55653225 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.609C>G (p.Leu203=) single nucleotide variant Nemaline myopathy 5 [RCV002746328] Chr19:55137105 [GRCh38]
Chr19:55648473 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.610C>T (p.Arg204Trp) single nucleotide variant Nemaline myopathy 5 [RCV002962186] Chr19:55137104 [GRCh38]
Chr19:55648472 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.792-6C>G single nucleotide variant Nemaline myopathy 5 [RCV002580086] Chr19:55132966 [GRCh38]
Chr19:55644334 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.612-15C>T single nucleotide variant Nemaline myopathy 5 [RCV002717294] Chr19:55134219 [GRCh38]
Chr19:55645587 [GRCh37]
Chr19:19q13.42
likely benign|uncertain significance
NM_003283.6(TNNT1):c.584T>C (p.Ile195Thr) single nucleotide variant Nemaline myopathy 5 [RCV002602188] Chr19:55137130 [GRCh38]
Chr19:55648498 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.611+20C>T single nucleotide variant Nemaline myopathy 5 [RCV002578831] Chr19:55137083 [GRCh38]
Chr19:55648451 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.734A>T (p.Lys245Ile) single nucleotide variant Nemaline myopathy 5 [RCV002721867] Chr19:55134082 [GRCh38]
Chr19:55645450 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.642G>A (p.Gln214=) single nucleotide variant Nemaline myopathy 5 [RCV002944047] Chr19:55134174 [GRCh38]
Chr19:55645542 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.47-11C>T single nucleotide variant Nemaline myopathy 5 [RCV002943004] Chr19:55146718 [GRCh38]
Chr19:55658086 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.33-12A>G single nucleotide variant Nemaline myopathy 5 [RCV002814504] Chr19:55147033 [GRCh38]
Chr19:55658401 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.696G>A (p.Gln232=) single nucleotide variant Nemaline myopathy 5 [RCV002654925] Chr19:55134120 [GRCh38]
Chr19:55645488 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.309+15C>T single nucleotide variant Nemaline myopathy 5 [RCV003072037] Chr19:55141171 [GRCh38]
Chr19:55652539 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.129-16G>C single nucleotide variant Nemaline myopathy 5 [RCV002608190] Chr19:55141936 [GRCh38]
Chr19:55653304 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.310-20T>C single nucleotide variant Nemaline myopathy 5 [RCV002589578] Chr19:55140980 [GRCh38]
Chr19:55652348 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.107-12C>T single nucleotide variant Nemaline myopathy 5 [RCV003068941] Chr19:55145577 [GRCh38]
Chr19:55656945 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.616C>G (p.Arg206Gly) single nucleotide variant Nemaline myopathy 5 [RCV003073014] Chr19:55134200 [GRCh38]
Chr19:55645568 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.192+2dup duplication Nemaline myopathy 5 [RCV003226143] Chr19:55141854..55141855 [GRCh38]
Chr19:55653222..55653223 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.32+1G>A single nucleotide variant Nemaline myopathy 5 [RCV003132916] Chr19:55147125 [GRCh38]
Chr19:55658493 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.386C>T (p.Ala129Val) single nucleotide variant Nemaline myopathy 5 [RCV003141057] Chr19:55140884 [GRCh38]
Chr19:55652252 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.518G>A (p.Gly173Asp) single nucleotide variant Nemaline myopathy 5 [RCV003141058] Chr19:55137196 [GRCh38]
Chr19:55648564 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.524G>A (p.Arg175Gln) single nucleotide variant Nemaline myopathy 5 [RCV003141059] Chr19:55137190 [GRCh38]
Chr19:55648558 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.74-67C>A single nucleotide variant Nemaline myopathy 5 [RCV003226144] Chr19:55146533 [GRCh38]
Chr19:55657901 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.178C>T (p.Arg60Cys) single nucleotide variant Inborn genetic diseases [RCV003385550] Chr19:55141871 [GRCh38]
Chr19:55653239 [GRCh37]
Chr19:19q13.42
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43
likely pathogenic
NM_003283.6(TNNT1):c.258C>T (p.Phe86=) single nucleotide variant not provided [RCV003415453] Chr19:55141237 [GRCh38]
Chr19:55652605 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.272_281del (p.Lys91fs) deletion Nemaline myopathy 5 [RCV003445290] Chr19:55141214..55141223 [GRCh38]
Chr19:55652582..55652591 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.301G>A (p.Glu101Lys) single nucleotide variant Nemaline myopathy 5 [RCV003518343] Chr19:55141194 [GRCh38]
Chr19:55652562 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.107-9C>G single nucleotide variant Nemaline myopathy 5 [RCV003518268] Chr19:55145574 [GRCh38]
Chr19:55656942 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.822A>T (p.Gly274=) single nucleotide variant Nemaline myopathy 5 [RCV003518541] Chr19:55132930 [GRCh38]
Chr19:55644298 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.798G>A (p.Lys266=) single nucleotide variant Nemaline myopathy 5 [RCV003831481] Chr19:55132954 [GRCh38]
Chr19:55644322 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.435G>A (p.Glu145=) single nucleotide variant Nemaline myopathy 5 [RCV003878337] Chr19:55138027 [GRCh38]
Chr19:55649395 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.54T>G (p.Ala18=) single nucleotide variant Nemaline myopathy 5 [RCV003516937] Chr19:55146700 [GRCh38]
Chr19:55658068 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.502-16C>T single nucleotide variant Nemaline myopathy 5 [RCV003517535] Chr19:55137228 [GRCh38]
Chr19:55648596 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.20_32+2dup duplication not provided [RCV003491677] Chr19:55147123..55147124 [GRCh38]
Chr19:55658491..55658492 [GRCh37]
Chr19:19q13.42
uncertain significance
NM_003283.6(TNNT1):c.751-6C>G single nucleotide variant Nemaline myopathy 5 [RCV003634741] Chr19:55133933 [GRCh38]
Chr19:55645301 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.168A>G (p.Pro56=) single nucleotide variant Nemaline myopathy 5 [RCV003635245] Chr19:55141881 [GRCh38]
Chr19:55653249 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.74-18C>A single nucleotide variant Nemaline myopathy 5 [RCV003635296] Chr19:55146484 [GRCh38]
Chr19:55657852 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.408A>G (p.Glu136=) single nucleotide variant Nemaline myopathy 5 [RCV003634174] Chr19:55138054 [GRCh38]
Chr19:55649422 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.33-1G>A single nucleotide variant Nemaline myopathy 5 [RCV003632985] Chr19:55147022 [GRCh38]
Chr19:55658390 [GRCh37]
Chr19:19q13.42
likely pathogenic
NM_003283.6(TNNT1):c.42G>A (p.Pro14=) single nucleotide variant Nemaline myopathy 5 [RCV003634392] Chr19:55147012 [GRCh38]
Chr19:55658380 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.388-16C>T single nucleotide variant Nemaline myopathy 5 [RCV003634492] Chr19:55138090 [GRCh38]
Chr19:55649458 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.310-18T>C single nucleotide variant Nemaline myopathy 5 [RCV003633303] Chr19:55140978 [GRCh38]
Chr19:55652346 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.751-8del deletion Nemaline myopathy 5 [RCV003518701] Chr19:55133935 [GRCh38]
Chr19:55645303 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.74-7_74-4del deletion Nemaline myopathy 5 [RCV003633166] Chr19:55146470..55146473 [GRCh38]
Chr19:55657838..55657841 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.6G>C (p.Ser2=) single nucleotide variant Nemaline myopathy 5 [RCV003634091] Chr19:55147152 [GRCh38]
Chr19:55658520 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.387+14_387+19del deletion Nemaline myopathy 5 [RCV003634623] Chr19:55140864..55140869 [GRCh38]
Chr19:55652232..55652237 [GRCh37]
Chr19:19q13.42
likely benign
NM_003283.6(TNNT1):c.74-9C>T single nucleotide variant Nemaline myopathy 5 [RCV003634124] Chr19:55146475 [GRCh38]
Chr19:55657843 [GRCh37]
Chr19:19q13.42
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4895
Count of miRNA genes:877
Interacting mature miRNAs:1062
Transcripts:ENST00000291901, ENST00000356783, ENST00000536926, ENST00000585321, ENST00000586282, ENST00000586649, ENST00000587089, ENST00000587465, ENST00000587758, ENST00000588147, ENST00000588426, ENST00000588981, ENST00000589226, ENST00000589745, ENST00000592920, ENST00000593046, ENST00000593194
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.

Markers in Region
GDB:181281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371955,644,229 - 55,645,287UniSTSGRCh37
Build 361960,336,041 - 60,337,099RGDNCBI36
Celera1952,683,167 - 52,684,225RGD
Cytogenetic Map19q13.4UniSTS
HuRef1951,967,172 - 51,968,203UniSTS
RH71430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371955,644,218 - 55,645,284UniSTSGRCh37
Celera1952,683,156 - 52,684,222UniSTS
Cytogenetic Map19q13.4UniSTS
HuRef1951,967,161 - 51,968,200UniSTS
GeneMap99-GB4 RH Map19305.03UniSTS
GDB:204197  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.4UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 1 2 3 1 775 778 1 8 3 775
Medium 105 947 106 81 163 26 1572 500 490 51 433 285 67 74 745 2
Low 1457 1705 868 216 949 139 1628 623 3028 99 702 978 79 914 1064 2 1
Below cutoff 817 315 604 227 470 208 369 266 189 185 281 308 21 1 207 199

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001126132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001126133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY762903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY762904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC385627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC385695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F20363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F34258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S51938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000291901   ⟹   ENSP00000291901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,794 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000356783   ⟹   ENSP00000349233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,794 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000536926   ⟹   ENSP00000439640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,832 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000585321   ⟹   ENSP00000467980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,865 - 55,146,942 (-)Ensembl
RefSeq Acc Id: ENST00000586282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,145,400 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000586649   ⟹   ENSP00000469564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,950 - 55,137,177 (-)Ensembl
RefSeq Acc Id: ENST00000587089   ⟹   ENSP00000465544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,876 - 55,146,454 (-)Ensembl
RefSeq Acc Id: ENST00000587465   ⟹   ENSP00000464843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,835 - 55,146,949 (-)Ensembl
RefSeq Acc Id: ENST00000587758   ⟹   ENSP00000467789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,794 - 55,149,193 (-)Ensembl
RefSeq Acc Id: ENST00000588147   ⟹   ENSP00000467299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,138,018 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000588426   ⟹   ENSP00000465991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,794 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000588981   ⟹   ENSP00000467176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,698 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000589226   ⟹   ENSP00000470854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,137,976 - 55,147,308 (-)Ensembl
RefSeq Acc Id: ENST00000589745   ⟹   ENSP00000465686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,828 - 55,140,922 (-)Ensembl
RefSeq Acc Id: ENST00000592920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,138,005 - 55,149,206 (-)Ensembl
RefSeq Acc Id: ENST00000593046   ⟹   ENSP00000470777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,137,103 - 55,147,346 (-)Ensembl
RefSeq Acc Id: ENST00000593194   ⟹   ENSP00000467881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,132,826 - 55,141,891 (-)Ensembl
RefSeq Acc Id: NM_001126132   ⟹   NP_001119604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,132,698 - 55,149,206 (-)NCBI
GRCh371955,644,161 - 55,660,752 (-)NCBI
HuRef1951,967,104 - 51,981,532 (-)ENTREZGENE
CHM1_11955,637,672 - 55,654,283 (-)NCBI
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001126133   ⟹   NP_001119605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,132,698 - 55,149,206 (-)NCBI
GRCh371955,644,161 - 55,660,752 (-)NCBI
HuRef1951,967,104 - 51,981,532 (-)ENTREZGENE
CHM1_11955,637,672 - 55,654,283 (-)NCBI
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001291774   ⟹   NP_001278703
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,132,698 - 55,149,206 (-)NCBI
CHM1_11955,637,672 - 55,654,283 (-)NCBI
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003283   ⟹   NP_003274
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,132,698 - 55,149,206 (-)NCBI
GRCh371955,644,161 - 55,660,752 (-)NCBI
Build 361960,336,009 - 60,352,386 (-)NCBI Archive
HuRef1951,967,104 - 51,981,532 (-)ENTREZGENE
CHM1_11955,637,672 - 55,654,283 (-)NCBI
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527246   ⟹   XP_011525548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,132,698 - 55,149,206 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027186   ⟹   XP_016882675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,132,698 - 55,149,206 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027187   ⟹   XP_016882676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,132,698 - 55,149,206 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054321903   ⟹   XP_054177878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBI
RefSeq Acc Id: XM_054321904   ⟹   XP_054177879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBI
RefSeq Acc Id: XM_054321905   ⟹   XP_054177880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01958,226,372 - 58,243,170 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001119604 (Get FASTA)   NCBI Sequence Viewer  
  NP_001119605 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278703 (Get FASTA)   NCBI Sequence Viewer  
  NP_003274 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525548 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882675 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882676 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177880 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61204 (Get FASTA)   NCBI Sequence Viewer  
  AAA61205 (Get FASTA)   NCBI Sequence Viewer  
  AAB30272 (Get FASTA)   NCBI Sequence Viewer  
  AAB30273 (Get FASTA)   NCBI Sequence Viewer  
  AAD13978 (Get FASTA)   NCBI Sequence Viewer  
  AAH07074 (Get FASTA)   NCBI Sequence Viewer  
  AAH10963 (Get FASTA)   NCBI Sequence Viewer  
  AAH22086 (Get FASTA)   NCBI Sequence Viewer  
  AAH34143 (Get FASTA)   NCBI Sequence Viewer  
  AAI07799 (Get FASTA)   NCBI Sequence Viewer  
  AAV38436 (Get FASTA)   NCBI Sequence Viewer  
  AAX07831 (Get FASTA)   NCBI Sequence Viewer  
  AAX07832 (Get FASTA)   NCBI Sequence Viewer  
  BAF84041 (Get FASTA)   NCBI Sequence Viewer  
  CAA09750 (Get FASTA)   NCBI Sequence Viewer  
  CAA09751 (Get FASTA)   NCBI Sequence Viewer  
  CAA09752 (Get FASTA)   NCBI Sequence Viewer  
  EAW72336 (Get FASTA)   NCBI Sequence Viewer  
  EAW72337 (Get FASTA)   NCBI Sequence Viewer  
  EAW72338 (Get FASTA)   NCBI Sequence Viewer  
  EAW72339 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000291901
  ENSP00000291901.8
  ENSP00000349233
  ENSP00000349233.4
  ENSP00000464843.2
  ENSP00000465544.2
  ENSP00000465686.2
  ENSP00000465991.1
  ENSP00000467176
  ENSP00000467176.1
  ENSP00000467299.1
  ENSP00000467789
  ENSP00000467789.1
  ENSP00000467881.2
  ENSP00000467980.2
  ENSP00000469564.1
  ENSP00000470777.1
  ENSP00000470854.1
GenBank Protein P13805 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001119605   ⟸   NM_001126133
- Peptide Label: isoform c
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001119604   ⟸   NM_001126132
- Peptide Label: isoform b
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003274   ⟸   NM_003283
- Peptide Label: isoform a
- UniProtKB: Q16061 (UniProtKB/Swiss-Prot),   O95472 (UniProtKB/Swiss-Prot),   Q5U0E1 (UniProtKB/Swiss-Prot),   P13805 (UniProtKB/Swiss-Prot),   A8K5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278703   ⟸   NM_001291774
- Peptide Label: isoform c
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525548   ⟸   XM_011527246
- Peptide Label: isoform X2
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882675   ⟸   XM_017027186
- Peptide Label: isoform X1
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882676   ⟸   XM_017027187
- Peptide Label: isoform X2
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000291901   ⟸   ENST00000291901
RefSeq Acc Id: ENSP00000467980   ⟸   ENST00000585321
RefSeq Acc Id: ENSP00000469564   ⟸   ENST00000586649
RefSeq Acc Id: ENSP00000465544   ⟸   ENST00000587089
RefSeq Acc Id: ENSP00000464843   ⟸   ENST00000587465
RefSeq Acc Id: ENSP00000467789   ⟸   ENST00000587758
RefSeq Acc Id: ENSP00000465991   ⟸   ENST00000588426
RefSeq Acc Id: ENSP00000467299   ⟸   ENST00000588147
RefSeq Acc Id: ENSP00000467176   ⟸   ENST00000588981
RefSeq Acc Id: ENSP00000470854   ⟸   ENST00000589226
RefSeq Acc Id: ENSP00000465686   ⟸   ENST00000589745
RefSeq Acc Id: ENSP00000439640   ⟸   ENST00000536926
RefSeq Acc Id: ENSP00000349233   ⟸   ENST00000356783
RefSeq Acc Id: ENSP00000470777   ⟸   ENST00000593046
RefSeq Acc Id: ENSP00000467881   ⟸   ENST00000593194
RefSeq Acc Id: XP_054177880   ⟸   XM_054321905
- Peptide Label: isoform X2
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177878   ⟸   XM_054321903
- Peptide Label: isoform X1
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177879   ⟸   XM_054321904
- Peptide Label: isoform X2
- UniProtKB: A8K5N7 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13805-F1-model_v2 AlphaFold P13805 1-278 view protein structure

Promoters
RGD ID:13205685
Promoter ID:EPDNEW_H26423
Type:multiple initiation site
Name:TNNT1_1
Description:troponin T1, slow skeletal type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,149,206 - 55,149,266EPDNEW
RGD ID:6796129
Promoter ID:HG_KWN:31028
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC002QIZ.2,   UC002QJA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361960,349,901 - 60,350,401 (-)MPROMDB
RGD ID:6851666
Promoter ID:EP73635
Type:multiple initiation site
Name:HS_TNNT1
Description:Troponin T1, skeletal, slow.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361960,352,386 - 60,352,446EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11948 AgrOrtholog
COSMIC TNNT1 COSMIC
Ensembl Genes ENSG00000105048 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000291901 ENTREZGENE
  ENST00000291901.12 UniProtKB/Swiss-Prot
  ENST00000356783 ENTREZGENE
  ENST00000356783.9 UniProtKB/Swiss-Prot
  ENST00000585321.6 UniProtKB/TrEMBL
  ENST00000586649.2 UniProtKB/TrEMBL
  ENST00000587089.6 UniProtKB/TrEMBL
  ENST00000587465.6 UniProtKB/TrEMBL
  ENST00000587758 ENTREZGENE
  ENST00000587758.5 UniProtKB/Swiss-Prot
  ENST00000588147.5 UniProtKB/TrEMBL
  ENST00000588426.5 UniProtKB/TrEMBL
  ENST00000588981 ENTREZGENE
  ENST00000588981.6 UniProtKB/Swiss-Prot
  ENST00000589226.5 UniProtKB/TrEMBL
  ENST00000589745.5 UniProtKB/TrEMBL
  ENST00000593046.5 UniProtKB/TrEMBL
  ENST00000593194.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105048 GTEx
HGNC ID HGNC:11948 ENTREZGENE
Human Proteome Map TNNT1 Human Proteome Map
InterPro TNNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Troponin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Troponin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7138 UniProtKB/Swiss-Prot
NCBI Gene 7138 ENTREZGENE
OMIM 191041 OMIM
PANTHER PTHR11521 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TROPONIN T, SLOW SKELETAL MUSCLE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Troponin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36637 PharmGKB
Superfamily-SCOP SSF90250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5N7 ENTREZGENE, UniProtKB/TrEMBL
  K7EKB5_HUMAN UniProtKB/TrEMBL
  K7EKM3_HUMAN UniProtKB/TrEMBL
  K7ELB0_HUMAN UniProtKB/TrEMBL
  K7EQL4_HUMAN UniProtKB/TrEMBL
  M0QX01_HUMAN UniProtKB/TrEMBL
  M0QY38_HUMAN UniProtKB/TrEMBL
  M0QZU8_HUMAN UniProtKB/TrEMBL
  M0QZY5_HUMAN UniProtKB/TrEMBL
  O95472 ENTREZGENE
  P13805 ENTREZGENE
  Q05DL6_HUMAN UniProtKB/TrEMBL
  Q16061 ENTREZGENE
  Q3B759_HUMAN UniProtKB/TrEMBL
  Q56R93_HUMAN UniProtKB/TrEMBL
  Q56R94_HUMAN UniProtKB/TrEMBL
  Q5U0E1 ENTREZGENE
  TNNT1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary F5H1H4 UniProtKB/TrEMBL
  O95472 UniProtKB/Swiss-Prot
  Q16061 UniProtKB/Swiss-Prot
  Q5U0E1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 TNNT1  troponin T1, slow skeletal type  TNNT1  troponin T type 1 (skeletal, slow)  Symbol and/or name change 5135510 APPROVED