DNAH14 (dynein axonemal heavy chain 14) - Rat Genome Database

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Gene: DNAH14 (dynein axonemal heavy chain 14) Homo sapiens
Analyze
Symbol: DNAH14
Name: dynein axonemal heavy chain 14
RGD ID: 1350731
HGNC Page HGNC:2945
Description: Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Predicted to be involved in cilium movement involved in cell motility. Predicted to be located in axoneme and microtubule. Predicted to be part of dynein complex. Predicted to be active in 9+2 motile cilium.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: axonemal beta dynein heavy chain 14; C1orf67; chromosome 1 open reading frame 67; ciliary dynein heavy chain 14; DKFZp781B1548; Dnahc14; dynein heavy chain 14, axonemal; dynein, axonemal, heavy chain 14; dynein, axonemal, heavy polypeptide 14; HL-18; HL18; MGC149665; MGC149666; MGC27277; MGC51214
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381224,929,654 - 225,399,286 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1224,896,262 - 225,399,292 (+)EnsemblGRCh38hg38GRCh38
GRCh371225,117,356 - 225,586,988 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361223,228,456 - 223,653,619 (+)NCBINCBI36Build 36hg18NCBI36
Celera1198,307,991 - 198,777,597 (+)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1195,635,850 - 196,105,957 (+)NCBIHuRef
CHM1_11226,389,914 - 226,859,343 (+)NCBICHM1_1
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Multiple mouse chromosomal loci for dynein-based motility. Vaughan KT, etal., Genomics 1996 Aug 15;36(1):29-38.
Additional References at PubMed
PMID:11181995   PMID:12107410   PMID:12477932   PMID:15146197   PMID:21832049   PMID:21873635   PMID:26036949   PMID:26186194   PMID:27503909   PMID:28339086   PMID:28514442   PMID:28611215  
PMID:28986522   PMID:29323929   PMID:29676528   PMID:30021884   PMID:33577779   PMID:33961781   PMID:34349018   PMID:34709727   PMID:35438214   PMID:35563538   PMID:38263208  


Genomics

Comparative Map Data
DNAH14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381224,929,654 - 225,399,286 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1224,896,262 - 225,399,292 (+)EnsemblGRCh38hg38GRCh38
GRCh371225,117,356 - 225,586,988 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361223,228,456 - 223,653,619 (+)NCBINCBI36Build 36hg18NCBI36
Celera1198,307,991 - 198,777,597 (+)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1195,635,850 - 196,105,957 (+)NCBIHuRef
CHM1_11226,389,914 - 226,859,343 (+)NCBICHM1_1
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBIT2T-CHM13v2.0
Dnah14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391181,404,158 - 181,642,306 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1181,404,124 - 181,643,339 (+)EnsemblGRCm39 Ensembl
GRCm381181,576,593 - 181,814,932 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1181,576,559 - 181,815,774 (+)EnsemblGRCm38mm10GRCm38
MGSCv371183,671,167 - 183,699,805 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361183,577,711 - 183,606,349 (+)NCBIMGSCv36mm8
Celera1188,626,104 - 188,867,143 (+)NCBICelera
Cytogenetic Map1H4- H5NCBI
cM Map184.83NCBI
Dnah14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81395,853,735 - 96,070,327 (+)NCBIGRCr8
mRatBN7.21393,322,653 - 93,540,706 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1393,322,711 - 93,538,646 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01399,886,373 - 100,072,674 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.013101,936,210 - 101,973,640 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.013106,589,001 - 106,620,995 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.013104,874,814 - 105,057,004 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41397,616,332 - 97,777,328 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1392,863,539 - 93,076,010 (+)NCBICelera
Cytogenetic Map13q26NCBI
Dnah14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955520418,041 - 735,810 (-)NCBIChiLan1.0ChiLan1.0
DNAH14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2124,132,849 - 24,596,498 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1124,083,892 - 24,552,807 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01200,399,800 - 200,863,406 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11205,405,371 - 205,868,205 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1205,405,249 - 205,868,182 (+)Ensemblpanpan1.1panPan2
DNAH14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1739,310,580 - 39,648,017 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl739,310,585 - 39,641,151 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha738,792,753 - 39,126,593 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0739,144,766 - 39,479,170 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl739,144,771 - 39,475,366 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1738,983,923 - 39,318,031 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0738,992,660 - 39,326,578 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0739,262,415 - 39,596,225 (-)NCBIUU_Cfam_GSD_1.0
Dnah14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934452,494,542 - 52,813,459 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365261,942,923 - 2,252,731 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365261,922,088 - 2,252,731 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAH14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1013,104,564 - 13,389,992 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11013,048,002 - 13,389,497 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21016,439,411 - 16,542,080 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103230008
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1254,355,323 - 4,831,801 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl254,749,270 - 4,817,849 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660554,898,364 - 4,971,908 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in DNAH14
360 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
NM_001373.1(DNAH14):c.2079+314A>G single nucleotide variant Lung cancer [RCV000090563] Chr1:225050690 [GRCh38]
Chr1:225238392 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3755T>A (p.Met1252Lys) single nucleotide variant Non-immune hydrops fetalis [RCV000170575] Chr1:225100772 [GRCh38]
Chr1:225288474 [GRCh37]
Chr1:1q42.12		 likely pathogenic|benign
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12(chr1:224722478-225761035)x1 copy number loss See cases [RCV000142327] Chr1:224722478..225761035 [GRCh38]
Chr1:224910180..225948737 [GRCh37]
Chr1:222976803..224015360 [NCBI36]
Chr1:1q42.12		 uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser) single nucleotide variant Seizure [RCV003311609] Chr1:225153790 [GRCh38]
Chr1:225341492 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln) single nucleotide variant Seizure [RCV003311610] Chr1:225085622 [GRCh38]
Chr1:225273324 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2347T>C (p.Tyr783His) single nucleotide variant not specified [RCV004307328] Chr1:225051718 [GRCh38]
Chr1:225239420 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9263G>C (p.Ser3088Thr) single nucleotide variant not specified [RCV004317205] Chr1:225318605 [GRCh38]
Chr1:225506307 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.12(chr1:225090272-225153371)x1 copy number loss See cases [RCV000446389] Chr1:225090272..225153371 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.12186T>G (p.Asn4062Lys) single nucleotide variant not provided [RCV004713991]|not specified [RCV000454400] Chr1:225367900 [GRCh38]
Chr1:225555602 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.12651C>T (p.Gly4217=) single nucleotide variant not provided [RCV004715195]|not specified [RCV000454408] Chr1:225377371 [GRCh38]
Chr1:225565073 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.2482C>G (p.Leu828Val) single nucleotide variant not provided [RCV004715185]|not specified [RCV000454587] Chr1:225079264 [GRCh38]
Chr1:225266966 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.3032G>A (p.Arg1011Gln) single nucleotide variant not provided [RCV004713985]|not specified [RCV000454602] Chr1:225080644 [GRCh38]
Chr1:225268346 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.5031C>G (p.Leu1677=) single nucleotide variant not provided [RCV004715188]|not specified [RCV000454659] Chr1:225152718 [GRCh38]
Chr1:225340420 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.502C>T (p.Pro168Ser) single nucleotide variant not specified [RCV000454680] Chr1:224967434 [GRCh38]
Chr1:225155136 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8469+9T>G single nucleotide variant not provided [RCV004713988]|not specified [RCV000454722] Chr1:225290091 [GRCh38]
Chr1:225477793 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.10699A>G (p.Lys3567Glu) single nucleotide variant not provided [RCV004713989]|not specified [RCV000454969] Chr1:225345982 [GRCh38]
Chr1:225533684 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.11288G>A (p.Arg3763Lys) single nucleotide variant not provided [RCV004713990]|not specified [RCV000455033] Chr1:225346646 [GRCh38]
Chr1:225534348 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.12319-5C>T single nucleotide variant not provided [RCV004715193]|not specified [RCV000455041] Chr1:225374683 [GRCh38]
Chr1:225562385 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.3295A>T (p.Asn1099Tyr) single nucleotide variant not provided [RCV004713986]|not specified [RCV000455072] Chr1:225082707 [GRCh38]
Chr1:225270409 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.13037T>G (p.Phe4346Cys) single nucleotide variant not provided [RCV004713992]|not specified [RCV000455103] Chr1:225381539 [GRCh38]
Chr1:225569241 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.2792C>A (p.Ala931Asp) single nucleotide variant not provided [RCV004715186]|not specified [RCV000455226] Chr1:225080404 [GRCh38]
Chr1:225268106 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.6749-15T>C single nucleotide variant not provided [RCV004715189]|not specified [RCV000455351] Chr1:225252286 [GRCh38]
Chr1:225439988 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.9250A>G (p.Asn3084Asp) single nucleotide variant not provided [RCV004715190]|not specified [RCV000455361] Chr1:225318592 [GRCh38]
Chr1:225506294 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.12593T>C (p.Leu4198Pro) single nucleotide variant not provided [RCV004715194]|not specified [RCV000455532] Chr1:225377313 [GRCh38]
Chr1:225565015 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.1560C>T (p.Cys520=) single nucleotide variant not provided [RCV004713983]|not specified [RCV000455645] Chr1:225042906 [GRCh38]
Chr1:225230608 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.10746T>A (p.Ile3582=) single nucleotide variant not provided [RCV001836819]|not specified [RCV000455668] Chr1:225346029 [GRCh38]
Chr1:225533731 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.12096C>T (p.Ala4032=) single nucleotide variant not provided [RCV004715192]|not specified [RCV000455678] Chr1:225367810 [GRCh38]
Chr1:225555512 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.7830T>C (p.Asp2610=) single nucleotide variant not provided [RCV003418145]|not specified [RCV000455806] Chr1:225272064 [GRCh38]
Chr1:225459766 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.3330G>T (p.Met1110Ile) single nucleotide variant not provided [RCV004715187]|not specified [RCV000455813] Chr1:225085546 [GRCh38]
Chr1:225273248 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.3029A>G (p.Lys1010Arg) single nucleotide variant not provided [RCV004713984]|not specified [RCV000455821] Chr1:225080641 [GRCh38]
Chr1:225268343 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.11159T>C (p.Val3720Ala) single nucleotide variant not provided [RCV004715191]|not specified [RCV000455952] Chr1:225346517 [GRCh38]
Chr1:225534219 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.10458C>A (p.Asp3486Glu) single nucleotide variant not provided [RCV001692101]|not specified [RCV000455967] Chr1:225340481 [GRCh38]
Chr1:225528183 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.6866-10G>T single nucleotide variant not provided [RCV004713987]|not specified [RCV000455969] Chr1:225257950 [GRCh38]
Chr1:225445652 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001367479.1(DNAH14):c.11777-2A>G single nucleotide variant not provided [RCV000509274] Chr1:225360679 [GRCh38]
Chr1:225548381 [GRCh37]
Chr1:1q42.12		 uncertain significance|not provided
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001367479.1(DNAH14):c.1972A>G (p.Ile658Val) single nucleotide variant not specified [RCV004308514] Chr1:225050269 [GRCh38]
Chr1:225237971 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8006T>C (p.Phe2669Ser) single nucleotide variant not specified [RCV004326538] Chr1:225273121 [GRCh38]
Chr1:225460823 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9388A>T (p.Ile3130Phe) single nucleotide variant not specified [RCV004333710] Chr1:225322716 [GRCh38]
Chr1:225510418 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10933A>C (p.Lys3645Gln) single nucleotide variant not specified [RCV004303020] Chr1:225346216 [GRCh38]
Chr1:225533918 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1925C>T (p.Pro642Leu) single nucleotide variant not specified [RCV004294460] Chr1:225050222 [GRCh38]
Chr1:225237924 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13253A>C (p.His4418Pro) single nucleotide variant not specified [RCV004320675] Chr1:225389796 [GRCh38]
Chr1:225577498 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2125A>C (p.Asn709His) single nucleotide variant not specified [RCV004291471] Chr1:225051496 [GRCh38]
Chr1:225239198 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4337G>C (p.Gly1446Ala) single nucleotide variant not specified [RCV004306500] Chr1:225140850 [GRCh38]
Chr1:225328552 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2776C>T (p.Pro926Ser) single nucleotide variant not specified [RCV004315816] Chr1:225080388 [GRCh38]
Chr1:225268090 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9686G>A (p.Arg3229Gln) single nucleotide variant not specified [RCV004289629] Chr1:225324795 [GRCh38]
Chr1:225512497 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4100G>T (p.Arg1367Leu) single nucleotide variant not specified [RCV004302438] Chr1:225119228 [GRCh38]
Chr1:225306930 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8374A>G (p.Ile2792Val) single nucleotide variant not specified [RCV004311594] Chr1:225289987 [GRCh38]
Chr1:225477689 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5048C>G (p.Ser1683Cys) single nucleotide variant not specified [RCV004287876] Chr1:225152735 [GRCh38]
Chr1:225340437 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.12(chr1:225211934-225347689)x3 copy number gain not provided [RCV000736881] Chr1:225211934..225347689 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q42.12(chr1:225380088-225455588)x1 copy number loss not provided [RCV000736882] Chr1:225380088..225455588 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.8689C>T (p.Arg2897Cys) single nucleotide variant not provided [RCV001531663] Chr1:225303213 [GRCh38]
Chr1:225490915 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.10765del (p.Thr3589fs) deletion not provided [RCV000761709] Chr1:225346047 [GRCh38]
Chr1:225533749 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NM_001367479.1(DNAH14):c.13703C>T (p.Pro4568Leu) single nucleotide variant not provided [RCV003239221] Chr1:225399118 [GRCh38]
Chr1:225586820 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10374A>C (p.Lys3458Asn) single nucleotide variant not specified [RCV004318176] Chr1:225338123 [GRCh38]
Chr1:225525825 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-42.12(chr1:224340881-225147932) copy number loss not provided [RCV000767548] Chr1:224340881..225147932 [GRCh37]
Chr1:1q42.11-42.12		 pathogenic
NM_001367479.1(DNAH14):c.7306A>G (p.Ile2436Val) single nucleotide variant not specified [RCV004318600] Chr1:225265265 [GRCh38]
Chr1:225452967 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10059A>C (p.Lys3353Asn) single nucleotide variant not specified [RCV004331964] Chr1:225333485 [GRCh38]
Chr1:225521187 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12325A>G (p.Ile4109Val) single nucleotide variant not specified [RCV004301032] Chr1:225374694 [GRCh38]
Chr1:225562396 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.12(chr1:225390932-225463772)x3 copy number gain not provided [RCV000847897] Chr1:225390932..225463772 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4886T>C (p.Val1629Ala) single nucleotide variant not specified [RCV004317634] Chr1:225147195 [GRCh38]
Chr1:225334897 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.12(chr1:225390932-225463772)x3 copy number gain not provided [RCV000848902] Chr1:225390932..225463772 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.12(chr1:225374012-225537672)x1 copy number loss not provided [RCV000848402] Chr1:225374012..225537672 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_001367479.1(DNAH14):c.10588C>T (p.Arg3530Cys) single nucleotide variant not provided [RCV003318269] Chr1:225340611 [GRCh38]
Chr1:225528313 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3659A>G (p.Tyr1220Cys) single nucleotide variant not specified [RCV004313761] Chr1:225097203 [GRCh38]
Chr1:225284905 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5534A>T (p.Gln1845Leu) single nucleotide variant not provided [RCV003318020] Chr1:225168027 [GRCh38]
Chr1:225355729 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6518+5G>A single nucleotide variant not provided [RCV003239259] Chr1:225231156 [GRCh38]
Chr1:225418858 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-42.12(chr1:224486843-225283297)x3 copy number gain not provided [RCV000845738] Chr1:224486843..225283297 [GRCh37]
Chr1:1q42.11-42.12		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_001367479.1(DNAH14):c.6203G>T (p.Gly2068Val) single nucleotide variant not provided [RCV003237128] Chr1:225206984 [GRCh38]
Chr1:225394686 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3335A>C (p.Gln1112Pro) single nucleotide variant not specified [RCV004291679] Chr1:225085551 [GRCh38]
Chr1:225273253 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12537A>T (p.Gly4179=) single nucleotide variant not specified [RCV004320755] Chr1:225377257 [GRCh38]
Chr1:225564959 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5480T>A (p.Leu1827Ter) single nucleotide variant not provided [RCV003318063] Chr1:225167973 [GRCh38]
Chr1:225355675 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9839T>G (p.Leu3280Ter) single nucleotide variant not provided [RCV003318279] Chr1:225331552 [GRCh38]
Chr1:225519254 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9007G>T (p.Asp3003Tyr) single nucleotide variant not specified [RCV004301200] Chr1:225307462 [GRCh38]
Chr1:225495164 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.767G>A (p.Arg256Gln) single nucleotide variant not provided [RCV003236993] Chr1:224968874 [GRCh38]
Chr1:225156576 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11798T>C (p.Leu3933Pro) single nucleotide variant not specified [RCV004304860] Chr1:225360702 [GRCh38]
Chr1:225548404 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.499-19A>T single nucleotide variant not provided [RCV001527792] Chr1:224967412 [GRCh38]
Chr1:225155114 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.9973G>C (p.Glu3325Gln) single nucleotide variant not provided [RCV001608539] Chr1:225333399 [GRCh38]
Chr1:225521101 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q42.12(chr1:225173461-225307210)x1 copy number loss not provided [RCV001259112] Chr1:225173461..225307210 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2771G>C (p.Arg924Thr) single nucleotide variant not specified [RCV004609097] Chr1:225080383 [GRCh38]
Chr1:225268085 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3872A>G (p.Tyr1291Cys) single nucleotide variant not specified [RCV004609098] Chr1:225117688 [GRCh38]
Chr1:225305390 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3075T>A (p.Asp1025Glu) single nucleotide variant not specified [RCV004609107] Chr1:225080687 [GRCh38]
Chr1:225268389 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5062G>C (p.Val1688Leu) single nucleotide variant not specified [RCV004609114] Chr1:225152749 [GRCh38]
Chr1:225340451 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4141A>G (p.Lys1381Glu) single nucleotide variant not specified [RCV004609119] Chr1:225119269 [GRCh38]
Chr1:225306971 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2977G>A (p.Glu993Lys) single nucleotide variant not specified [RCV004609121] Chr1:225080589 [GRCh38]
Chr1:225268291 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7672G>A (p.Ala2558Thr) single nucleotide variant not specified [RCV004609081] Chr1:225271906 [GRCh38]
Chr1:225459608 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2311G>A (p.Val771Ile) single nucleotide variant not specified [RCV004609083] Chr1:225051682 [GRCh38]
Chr1:225239384 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.336G>T (p.Arg112Ser) single nucleotide variant not specified [RCV004609084] Chr1:224960271 [GRCh38]
Chr1:225147973 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7154C>T (p.Ser2385Leu) single nucleotide variant not specified [RCV004609108] Chr1:225259250 [GRCh38]
Chr1:225446952 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10361A>G (p.Asp3454Gly) single nucleotide variant not specified [RCV004609116] Chr1:225338110 [GRCh38]
Chr1:225525812 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7903C>T (p.Leu2635Phe) single nucleotide variant not specified [RCV004609087] Chr1:225273018 [GRCh38]
Chr1:225460720 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.6626G>A (p.Arg2209His) single nucleotide variant not specified [RCV004609090] Chr1:225240700 [GRCh38]
Chr1:225428402 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9656C>T (p.Ala3219Val) single nucleotide variant not specified [RCV004609096] Chr1:225324765 [GRCh38]
Chr1:225512467 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1608C>G (p.Asn536Lys) single nucleotide variant not specified [RCV004609104] Chr1:225042954 [GRCh38]
Chr1:225230656 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5654G>A (p.Arg1885Lys) single nucleotide variant not specified [RCV004609113] Chr1:225185409 [GRCh38]
Chr1:225373111 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001367479.1(DNAH14):c.4622C>T (p.Thr1541Met) single nucleotide variant not specified [RCV004609089] Chr1:225144510 [GRCh38]
Chr1:225332212 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3917G>A (p.Ser1306Asn) single nucleotide variant not specified [RCV004609092] Chr1:225117733 [GRCh38]
Chr1:225305435 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4498G>A (p.Glu1500Lys) single nucleotide variant not specified [RCV004609093] Chr1:225141011 [GRCh38]
Chr1:225328713 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8422A>C (p.Lys2808Gln) single nucleotide variant not specified [RCV004609100] Chr1:225290035 [GRCh38]
Chr1:225477737 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2005A>G (p.Ile669Val) single nucleotide variant not specified [RCV004609106] Chr1:225050302 [GRCh38]
Chr1:225238004 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7610_7613del (p.Lys2537fs) deletion not provided [RCV001837424] Chr1:225270803..225270806 [GRCh38]
Chr1:225458505..225458508 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_001367479.1(DNAH14):c.176_179del (p.Val59fs) deletion not provided [RCV001839345] Chr1:224955055..224955058 [GRCh38]
Chr1:225142757..225142760 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2980G>A (p.Gly994Ser) single nucleotide variant not provided [RCV001823413] Chr1:225080592 [GRCh38]
Chr1:225268294 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.9698C>T (p.Ala3233Val) single nucleotide variant not provided [RCV001839346]|not specified [RCV004041048] Chr1:225324807 [GRCh38]
Chr1:225512509 [GRCh37]
Chr1:1q42.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_001367479.1(DNAH14):c.10208G>A (p.Arg3403His) single nucleotide variant not specified [RCV004294139] Chr1:225337393 [GRCh38]
Chr1:225525095 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704) copy number loss Chromosome 1q41-q42 deletion syndrome [RCV002280724] Chr1:224432682..225142704 [GRCh37]
Chr1:1q42.11-42.12		 pathogenic
NM_001367479.1(DNAH14):c.7751C>G (p.Ser2584Cys) single nucleotide variant DNAH14-Associated Neurodevelopmental Disorder [RCV002275564]|not specified [RCV004612171] Chr1:225271985 [GRCh38]
Chr1:225459687 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12638G>A (p.Trp4213Ter) single nucleotide variant DNAH14-Associated Neurodevelopmental Disorder [RCV002275565] Chr1:225377358 [GRCh38]
Chr1:225565060 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11857G>A (p.Gly3953Ser) single nucleotide variant Neurodevelopmental disorder [RCV002293265] Chr1:225360761 [GRCh38]
Chr1:225548463 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001367479.1(DNAH14):c.7633C>A (p.Pro2545Thr) single nucleotide variant Neurodevelopmental disorder [RCV002293264] Chr1:225270828 [GRCh38]
Chr1:225458530 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6166C>T (p.Arg2056Ter) single nucleotide variant Neurodevelopmental disorder [RCV002293260] Chr1:225206159 [GRCh38]
Chr1:225393861 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_001367479.1(DNAH14):c.5218A>G (p.Arg1740Gly) single nucleotide variant Neurodevelopmental disorder [RCV002293261] Chr1:225153771 [GRCh38]
Chr1:225341473 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4862T>A (p.Leu1621Gln) single nucleotide variant Neurodevelopmental disorder [RCV002293263] Chr1:225147171 [GRCh38]
Chr1:225334873 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2527A>G (p.Lys843Glu) single nucleotide variant not specified [RCV004287619] Chr1:225079309 [GRCh38]
Chr1:225267011 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12946_12947del (p.Lys4316fs) deletion Neurodevelopmental disorder [RCV002293262] Chr1:225381448..225381449 [GRCh38]
Chr1:225569150..225569151 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7441C>A (p.Pro2481Thr) single nucleotide variant not specified [RCV004305930] Chr1:225266671 [GRCh38]
Chr1:225454373 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8434A>C (p.Thr2812Pro) single nucleotide variant not specified [RCV004317053] Chr1:225290047 [GRCh38]
Chr1:225477749 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12586G>T (p.Asp4196Tyr) single nucleotide variant not specified [RCV004327277] Chr1:225377306 [GRCh38]
Chr1:225565008 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12220T>A (p.Phe4074Ile) single nucleotide variant not specified [RCV004299312] Chr1:225367934 [GRCh38]
Chr1:225555636 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1 copy number loss not provided [RCV002474859] Chr1:221325488..225804228 [GRCh37]
Chr1:1q41-42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7943T>C (p.Leu2648Ser) single nucleotide variant not specified [RCV004184949] Chr1:225273058 [GRCh38]
Chr1:225460760 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2869A>C (p.Lys957Gln) single nucleotide variant not specified [RCV004296833] Chr1:225080481 [GRCh38]
Chr1:225268183 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1295A>C (p.Glu432Ala) single nucleotide variant not specified [RCV004609082] Chr1:225023802 [GRCh38]
Chr1:225211504 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6167G>A (p.Arg2056Gln) single nucleotide variant not specified [RCV004609094] Chr1:225206160 [GRCh38]
Chr1:225393862 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5272T>C (p.Cys1758Arg) single nucleotide variant not specified [RCV004609101] Chr1:225153825 [GRCh38]
Chr1:225341527 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6002T>C (p.Leu2001Pro) single nucleotide variant not specified [RCV004609102] Chr1:225205995 [GRCh38]
Chr1:225393697 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9881C>T (p.Thr3294Ile) single nucleotide variant not specified [RCV004609103] Chr1:225333307 [GRCh38]
Chr1:225521009 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4099C>A (p.Arg1367Ser) single nucleotide variant not provided [RCV003149544] Chr1:225119227 [GRCh38]
Chr1:225306929 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7229C>G (p.Pro2410Arg) single nucleotide variant not specified [RCV004129044] Chr1:225265188 [GRCh38]
Chr1:225452890 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.658A>G (p.Asn220Asp) single nucleotide variant not specified [RCV004162374] Chr1:224968765 [GRCh38]
Chr1:225156467 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3573+3A>G single nucleotide variant not provided [RCV002511255] Chr1:225085792 [GRCh38]
Chr1:225273494 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4017A>G (p.Ile1339Met) single nucleotide variant not specified [RCV004218831] Chr1:225117925 [GRCh38]
Chr1:225305627 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12026G>A (p.Arg4009Gln) single nucleotide variant not specified [RCV004216453] Chr1:225364830 [GRCh38]
Chr1:225552532 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4985C>T (p.Ala1662Val) single nucleotide variant not specified [RCV004231185] Chr1:225152049 [GRCh38]
Chr1:225339751 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5648C>G (p.Ala1883Gly) single nucleotide variant not specified [RCV004218832] Chr1:225185403 [GRCh38]
Chr1:225373105 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4693G>A (p.Gly1565Ser) single nucleotide variant not specified [RCV004197605] Chr1:225144581 [GRCh38]
Chr1:225332283 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4294G>C (p.Val1432Leu) single nucleotide variant not specified [RCV004126615] Chr1:225140807 [GRCh38]
Chr1:225328509 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7751C>T (p.Ser2584Phe) single nucleotide variant not provided [RCV003322931]|not specified [RCV004081296] Chr1:225271985 [GRCh38]
Chr1:225459687 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6757C>A (p.Leu2253Ile) single nucleotide variant not specified [RCV004158928] Chr1:225252309 [GRCh38]
Chr1:225440011 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9010C>T (p.Arg3004Cys) single nucleotide variant not provided [RCV002511367] Chr1:225307465 [GRCh38]
Chr1:225495167 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12760G>A (p.Asp4254Asn) single nucleotide variant not specified [RCV004135679] Chr1:225380202 [GRCh38]
Chr1:225567904 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_001367479.1(DNAH14):c.4312G>C (p.Glu1438Gln) single nucleotide variant not specified [RCV004111027] Chr1:225140825 [GRCh38]
Chr1:225328527 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8443A>G (p.Met2815Val) single nucleotide variant not specified [RCV004235821] Chr1:225290056 [GRCh38]
Chr1:225477758 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6408C>G (p.Asp2136Glu) single nucleotide variant not specified [RCV004197335] Chr1:225207189 [GRCh38]
Chr1:225394891 [GRCh37]
Chr1:1q42.12		 likely benign
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_001367479.1(DNAH14):c.11753C>T (p.Pro3918Leu) single nucleotide variant not specified [RCV004225452] Chr1:225358629 [GRCh38]
Chr1:225546331 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5014G>A (p.Gly1672Arg) single nucleotide variant not specified [RCV004239269] Chr1:225152701 [GRCh38]
Chr1:225340403 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7301C>G (p.Ser2434Cys) single nucleotide variant not specified [RCV004220995] Chr1:225265260 [GRCh38]
Chr1:225452962 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2209G>A (p.Glu737Lys) single nucleotide variant not specified [RCV004240372] Chr1:225051580 [GRCh38]
Chr1:225239282 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13138C>A (p.Leu4380Met) single nucleotide variant not specified [RCV004214623] Chr1:225388439 [GRCh38]
Chr1:225576141 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3535G>A (p.Ala1179Thr) single nucleotide variant not specified [RCV004209282] Chr1:225085751 [GRCh38]
Chr1:225273453 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2459A>T (p.Asp820Val) single nucleotide variant not specified [RCV004232824] Chr1:225079241 [GRCh38]
Chr1:225266943 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2660T>C (p.Met887Thr) single nucleotide variant not specified [RCV004095071] Chr1:225079442 [GRCh38]
Chr1:225267144 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.356A>G (p.Tyr119Cys) single nucleotide variant not specified [RCV004191934] Chr1:224960291 [GRCh38]
Chr1:225147993 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9763G>A (p.Asp3255Asn) single nucleotide variant not provided [RCV002510210]|not specified [RCV004064288] Chr1:225331476 [GRCh38]
Chr1:225519178 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10727A>G (p.Lys3576Arg) single nucleotide variant not specified [RCV004220210] Chr1:225346010 [GRCh38]
Chr1:225533712 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7601G>A (p.Arg2534His) single nucleotide variant not specified [RCV004114254] Chr1:225270796 [GRCh38]
Chr1:225458498 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5252C>T (p.Thr1751Met) single nucleotide variant not specified [RCV004136884] Chr1:225153805 [GRCh38]
Chr1:225341507 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5582C>T (p.Thr1861Ile) single nucleotide variant not provided [RCV002510055] Chr1:225185337 [GRCh38]
Chr1:225373039 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12482T>G (p.Val4161Gly) single nucleotide variant not specified [RCV004158135] Chr1:225374851 [GRCh38]
Chr1:225562553 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7088G>T (p.Gly2363Val) single nucleotide variant not specified [RCV004113414] Chr1:225259184 [GRCh38]
Chr1:225446886 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3038C>G (p.Ser1013Cys) single nucleotide variant not specified [RCV004112018] Chr1:225080650 [GRCh38]
Chr1:225268352 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10282A>G (p.Met3428Val) single nucleotide variant not specified [RCV004129979] Chr1:225337467 [GRCh38]
Chr1:225525169 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10087C>G (p.Arg3363Gly) single nucleotide variant not specified [RCV004177807] Chr1:225337272 [GRCh38]
Chr1:225524974 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11993A>G (p.Asn3998Ser) single nucleotide variant not specified [RCV004082424] Chr1:225364797 [GRCh38]
Chr1:225552499 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13618A>G (p.Ile4540Val) single nucleotide variant not specified [RCV004172215] Chr1:225398646 [GRCh38]
Chr1:225586348 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12938G>T (p.Arg4313Leu) single nucleotide variant not specified [RCV004160777] Chr1:225381440 [GRCh38]
Chr1:225569142 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4517A>G (p.Gln1506Arg) single nucleotide variant not specified [RCV004173393] Chr1:225144405 [GRCh38]
Chr1:225332107 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8467C>A (p.Gln2823Lys) single nucleotide variant not specified [RCV004153597] Chr1:225290080 [GRCh38]
Chr1:225477782 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2836_2837del (p.Ser946fs) microsatellite not provided [RCV002510130] Chr1:225080443..225080444 [GRCh38]
Chr1:225268145..225268146 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2200T>C (p.Ser734Pro) single nucleotide variant not provided [RCV002510176]|not specified [RCV004064287] Chr1:225051571 [GRCh38]
Chr1:225239273 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3647G>T (p.Arg1216Ile) single nucleotide variant not specified [RCV004186701] Chr1:225097191 [GRCh38]
Chr1:225284893 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3495T>A (p.Asp1165Glu) single nucleotide variant not specified [RCV004080694] Chr1:225085711 [GRCh38]
Chr1:225273413 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4451T>C (p.Ile1484Thr) single nucleotide variant not specified [RCV004240664] Chr1:225140964 [GRCh38]
Chr1:225328666 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9251A>G (p.Asn3084Ser) single nucleotide variant not provided [RCV002510218] Chr1:225318593 [GRCh38]
Chr1:225506295 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1897A>G (p.Met633Val) single nucleotide variant not specified [RCV004184346] Chr1:225043968 [GRCh38]
Chr1:225231670 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13576G>A (p.Glu4526Lys) single nucleotide variant not provided [RCV003322936]|not specified [RCV004225782] Chr1:225398604 [GRCh38]
Chr1:225586306 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3802G>A (p.Ala1268Thr) single nucleotide variant not specified [RCV004114552] Chr1:225100819 [GRCh38]
Chr1:225288521 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5174C>T (p.Ala1725Val) single nucleotide variant not specified [RCV004097122] Chr1:225152861 [GRCh38]
Chr1:225340563 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9796C>T (p.Arg3266Trp) single nucleotide variant not specified [RCV004212275] Chr1:225331509 [GRCh38]
Chr1:225519211 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4888A>G (p.Ile1630Val) single nucleotide variant not specified [RCV004070908] Chr1:225147197 [GRCh38]
Chr1:225334899 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8557A>G (p.Met2853Val) single nucleotide variant not specified [RCV004234005] Chr1:225300956 [GRCh38]
Chr1:225488658 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3667C>A (p.Pro1223Thr) single nucleotide variant not specified [RCV004185614] Chr1:225097211 [GRCh38]
Chr1:225284913 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.197T>C (p.Leu66Ser) single nucleotide variant not specified [RCV004227956] Chr1:224955078 [GRCh38]
Chr1:225142780 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3974C>T (p.Pro1325Leu) single nucleotide variant not specified [RCV004201112] Chr1:225117882 [GRCh38]
Chr1:225305584 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7727G>A (p.Ser2576Asn) single nucleotide variant not specified [RCV004228863] Chr1:225271961 [GRCh38]
Chr1:225459663 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12440G>A (p.Arg4147Gln) single nucleotide variant not specified [RCV004072338] Chr1:225374809 [GRCh38]
Chr1:225562511 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11847A>G (p.Ile3949Met) single nucleotide variant not specified [RCV004162721] Chr1:225360751 [GRCh38]
Chr1:225548453 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.9142C>T (p.Arg3048Trp) single nucleotide variant not specified [RCV004085828] Chr1:225308312 [GRCh38]
Chr1:225496014 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.820G>A (p.Glu274Lys) single nucleotide variant not specified [RCV004246774] Chr1:224974143 [GRCh38]
Chr1:225161845 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1844T>A (p.Ile615Lys) single nucleotide variant not specified [RCV004185109] Chr1:225043915 [GRCh38]
Chr1:225231617 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3059C>A (p.Ser1020Tyr) single nucleotide variant not specified [RCV004207318] Chr1:225080671 [GRCh38]
Chr1:225268373 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2098A>G (p.Ile700Val) single nucleotide variant not specified [RCV004189476] Chr1:225051469 [GRCh38]
Chr1:225239171 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3284C>T (p.Pro1095Leu) single nucleotide variant not specified [RCV004209966] Chr1:225082696 [GRCh38]
Chr1:225270398 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10814C>T (p.Pro3605Leu) single nucleotide variant not specified [RCV004125492] Chr1:225346097 [GRCh38]
Chr1:225533799 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3473T>G (p.Ile1158Ser) single nucleotide variant not specified [RCV004154115] Chr1:225085689 [GRCh38]
Chr1:225273391 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9031A>G (p.Thr3011Ala) single nucleotide variant not specified [RCV004197950] Chr1:225307486 [GRCh38]
Chr1:225495188 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8278A>C (p.Ile2760Leu) single nucleotide variant not specified [RCV004158822] Chr1:225289891 [GRCh38]
Chr1:225477593 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10642G>A (p.Glu3548Lys) single nucleotide variant not specified [RCV004235130] Chr1:225340665 [GRCh38]
Chr1:225528367 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2777C>T (p.Pro926Leu) single nucleotide variant not specified [RCV004103857] Chr1:225080389 [GRCh38]
Chr1:225268091 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.179G>C (p.Arg60Thr) single nucleotide variant not specified [RCV004143478] Chr1:224955060 [GRCh38]
Chr1:225142762 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1367A>G (p.Lys456Arg) single nucleotide variant not specified [RCV004091616] Chr1:225038702 [GRCh38]
Chr1:225226404 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7833G>T (p.Met2611Ile) single nucleotide variant not specified [RCV004228790] Chr1:225272067 [GRCh38]
Chr1:225459769 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11003G>A (p.Ser3668Asn) single nucleotide variant not specified [RCV004196236] Chr1:225346286 [GRCh38]
Chr1:225533988 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.3700C>T (p.Leu1234Phe) single nucleotide variant not specified [RCV004182716] Chr1:225100717 [GRCh38]
Chr1:225288419 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9509T>C (p.Leu3170Pro) single nucleotide variant not specified [RCV004100644] Chr1:225324235 [GRCh38]
Chr1:225511937 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8807A>G (p.Asn2936Ser) single nucleotide variant not specified [RCV004173550] Chr1:225303331 [GRCh38]
Chr1:225491033 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2280G>A (p.Met760Ile) single nucleotide variant not specified [RCV004074762] Chr1:225051651 [GRCh38]
Chr1:225239353 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1313C>A (p.Ala438Asp) single nucleotide variant not specified [RCV004122830] Chr1:225023820 [GRCh38]
Chr1:225211522 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8293A>G (p.Lys2765Glu) single nucleotide variant not specified [RCV004209967] Chr1:225289906 [GRCh38]
Chr1:225477608 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9694C>T (p.Leu3232Phe) single nucleotide variant not specified [RCV004242436] Chr1:225324803 [GRCh38]
Chr1:225512505 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10196A>G (p.His3399Arg) single nucleotide variant not specified [RCV004229353] Chr1:225337381 [GRCh38]
Chr1:225525083 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11182G>A (p.Gly3728Arg) single nucleotide variant not specified [RCV004143159] Chr1:225346540 [GRCh38]
Chr1:225534242 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3163C>T (p.His1055Tyr) single nucleotide variant not specified [RCV004155179] Chr1:225082575 [GRCh38]
Chr1:225270277 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9592G>C (p.Val3198Leu) single nucleotide variant not specified [RCV004100646] Chr1:225324318 [GRCh38]
Chr1:225512020 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5516A>C (p.Gln1839Pro) single nucleotide variant not specified [RCV004223227] Chr1:225168009 [GRCh38]
Chr1:225355711 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1259G>A (p.Arg420His) single nucleotide variant not specified [RCV004201111] Chr1:225023766 [GRCh38]
Chr1:225211468 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_001367479.1(DNAH14):c.9609C>G (p.Asn3203Lys) single nucleotide variant not specified [RCV004212356] Chr1:225324335 [GRCh38]
Chr1:225512037 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4492G>A (p.Asp1498Asn) single nucleotide variant not specified [RCV004195283] Chr1:225141005 [GRCh38]
Chr1:225328707 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7022C>T (p.Thr2341Ile) single nucleotide variant not specified [RCV004172364] Chr1:225258116 [GRCh38]
Chr1:225445818 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13022A>C (p.Glu4341Ala) single nucleotide variant not specified [RCV004241392] Chr1:225381524 [GRCh38]
Chr1:225569226 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5981T>A (p.Phe1994Tyr) single nucleotide variant not specified [RCV004227241] Chr1:225205974 [GRCh38]
Chr1:225393676 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10754G>C (p.Arg3585Pro) single nucleotide variant not specified [RCV004221339] Chr1:225346037 [GRCh38]
Chr1:225533739 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7135T>C (p.Tyr2379His) single nucleotide variant not specified [RCV004155329] Chr1:225259231 [GRCh38]
Chr1:225446933 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5338G>A (p.Ala1780Thr) single nucleotide variant not specified [RCV004137474] Chr1:225159378 [GRCh38]
Chr1:225347080 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6250A>G (p.Ile2084Val) single nucleotide variant not provided [RCV004763575]|not specified [RCV004123046] Chr1:225207031 [GRCh38]
Chr1:225394733 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9893T>C (p.Ile3298Thr) single nucleotide variant not specified [RCV004205554] Chr1:225333319 [GRCh38]
Chr1:225521021 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9670G>T (p.Val3224Phe) single nucleotide variant not specified [RCV004203782] Chr1:225324779 [GRCh38]
Chr1:225512481 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5734G>C (p.Glu1912Gln) single nucleotide variant not specified [RCV004157506] Chr1:225192759 [GRCh38]
Chr1:225380461 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7810T>C (p.Tyr2604His) single nucleotide variant not specified [RCV004110887] Chr1:225272044 [GRCh38]
Chr1:225459746 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7316G>A (p.Ser2439Asn) single nucleotide variant not specified [RCV004203233] Chr1:225265275 [GRCh38]
Chr1:225452977 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11561C>T (p.Thr3854Met) single nucleotide variant not specified [RCV004090607] Chr1:225353830 [GRCh38]
Chr1:225541532 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.7102A>C (p.Lys2368Gln) single nucleotide variant not specified [RCV004163571] Chr1:225259198 [GRCh38]
Chr1:225446900 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2830A>T (p.Thr944Ser) single nucleotide variant not specified [RCV004079043] Chr1:225080442 [GRCh38]
Chr1:225268144 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9125C>T (p.Thr3042Ile) single nucleotide variant not specified [RCV004192697] Chr1:225308295 [GRCh38]
Chr1:225495997 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.102A>T (p.Lys34Asn) single nucleotide variant not specified [RCV004127733] Chr1:224954983 [GRCh38]
Chr1:225142685 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12773G>A (p.Arg4258Gln) single nucleotide variant not specified [RCV004072420] Chr1:225380215 [GRCh38]
Chr1:225567917 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6128T>C (p.Val2043Ala) single nucleotide variant not specified [RCV004122183] Chr1:225206121 [GRCh38]
Chr1:225393823 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5329A>G (p.Ile1777Val) single nucleotide variant not specified [RCV004133588] Chr1:225159369 [GRCh38]
Chr1:225347071 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.13715C>T (p.Thr4572Ile) single nucleotide variant not specified [RCV004096883] Chr1:225399130 [GRCh38]
Chr1:225586832 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12695C>T (p.Thr4232Ile) single nucleotide variant not specified [RCV004089799] Chr1:225377415 [GRCh38]
Chr1:225565117 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12443G>A (p.Cys4148Tyr) single nucleotide variant not specified [RCV004086435] Chr1:225374812 [GRCh38]
Chr1:225562514 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10581A>C (p.Glu3527Asp) single nucleotide variant not specified [RCV004230754] Chr1:225340604 [GRCh38]
Chr1:225528306 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5366A>T (p.Asp1789Val) single nucleotide variant not specified [RCV004175544] Chr1:225159406 [GRCh38]
Chr1:225347108 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2023A>C (p.Thr675Pro) single nucleotide variant not specified [RCV004233243] Chr1:225050320 [GRCh38]
Chr1:225238022 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10831G>A (p.Ala3611Thr) single nucleotide variant not specified [RCV004075279] Chr1:225346114 [GRCh38]
Chr1:225533816 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9481A>G (p.Ser3161Gly) single nucleotide variant not specified [RCV004299740] Chr1:225322809 [GRCh38]
Chr1:225510511 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6062G>T (p.Arg2021Ile) single nucleotide variant not specified [RCV004259532] Chr1:225206055 [GRCh38]
Chr1:225393757 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3141A>C (p.Leu1047Phe) single nucleotide variant not specified [RCV004280456] Chr1:225082553 [GRCh38]
Chr1:225270255 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.460G>A (p.Gly154Arg) single nucleotide variant not specified [RCV004252034] Chr1:224964571 [GRCh38]
Chr1:225152273 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9670G>A (p.Val3224Ile) single nucleotide variant not provided [RCV003420596]|not specified [RCV004250070] Chr1:225324779 [GRCh38]
Chr1:225512481 [GRCh37]
Chr1:1q42.12		 likely benign|uncertain significance
NM_001367479.1(DNAH14):c.982A>G (p.Ser328Gly) single nucleotide variant not specified [RCV004250728] Chr1:225007419 [GRCh38]
Chr1:225195121 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11326C>A (p.Leu3776Ile) single nucleotide variant not specified [RCV004276895] Chr1:225351676 [GRCh38]
Chr1:225539378 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10463C>G (p.Pro3488Arg) single nucleotide variant not specified [RCV004278523] Chr1:225340486 [GRCh38]
Chr1:225528188 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.478A>G (p.Ile160Val) single nucleotide variant not specified [RCV004260537] Chr1:224964589 [GRCh38]
Chr1:225152291 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.368-1G>A single nucleotide variant not provided [RCV003218960] Chr1:224964478 [GRCh38]
Chr1:225152180 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13581C>G (p.Asp4527Glu) single nucleotide variant not specified [RCV004281186] Chr1:225398609 [GRCh38]
Chr1:225586311 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6059C>G (p.Thr2020Ser) single nucleotide variant not specified [RCV004278240] Chr1:225206052 [GRCh38]
Chr1:225393754 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11162T>C (p.Ile3721Thr) single nucleotide variant not specified [RCV004278408] Chr1:225346520 [GRCh38]
Chr1:225534222 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12975A>T (p.Leu4325Phe) single nucleotide variant not specified [RCV004278132] Chr1:225381477 [GRCh38]
Chr1:225569179 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7243G>A (p.Glu2415Lys) single nucleotide variant not specified [RCV004266427] Chr1:225265202 [GRCh38]
Chr1:225452904 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12710T>C (p.Met4237Thr) single nucleotide variant not specified [RCV004278991] Chr1:225377430 [GRCh38]
Chr1:225565132 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9245C>T (p.Thr3082Ile) single nucleotide variant not specified [RCV004266992] Chr1:225318587 [GRCh38]
Chr1:225506289 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1359A>T (p.Arg453Ser) single nucleotide variant not specified [RCV004279766] Chr1:225038694 [GRCh38]
Chr1:225226396 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12382C>T (p.Arg4128Cys) single nucleotide variant not specified [RCV004249871] Chr1:225374751 [GRCh38]
Chr1:225562453 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1759A>G (p.Ile587Val) single nucleotide variant not specified [RCV004249235] Chr1:225043105 [GRCh38]
Chr1:225230807 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11621T>C (p.Val3874Ala) single nucleotide variant not specified [RCV004277390] Chr1:225358497 [GRCh38]
Chr1:225546199 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12958G>T (p.Val4320Phe) single nucleotide variant not specified [RCV004278239] Chr1:225381460 [GRCh38]
Chr1:225569162 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11161A>G (p.Ile3721Val) single nucleotide variant not specified [RCV004278407] Chr1:225346519 [GRCh38]
Chr1:225534221 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2870A>T (p.Lys957Ile) single nucleotide variant not specified [RCV004271097] Chr1:225080482 [GRCh38]
Chr1:225268184 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10714T>G (p.Leu3572Val) single nucleotide variant not specified [RCV004281094] Chr1:225345997 [GRCh38]
Chr1:225533699 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6083G>C (p.Ser2028Thr) single nucleotide variant not specified [RCV004278242] Chr1:225206076 [GRCh38]
Chr1:225393778 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4934C>G (p.Ser1645Cys) single nucleotide variant not specified [RCV004258327] Chr1:225147243 [GRCh38]
Chr1:225334945 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5781del (p.Leu1928fs) deletion not provided [RCV003323040] Chr1:225192806 [GRCh38]
Chr1:225380508 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.409C>T (p.Arg137Ter) single nucleotide variant not provided [RCV003323191] Chr1:224964520 [GRCh38]
Chr1:225152222 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10685T>C (p.Ile3562Thr) single nucleotide variant not provided [RCV003323216]|not specified [RCV004334073] Chr1:225345968 [GRCh38]
Chr1:225533670 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12976A>G (p.Lys4326Glu) single nucleotide variant not specified [RCV004609085] Chr1:225381478 [GRCh38]
Chr1:225569180 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7304C>T (p.Thr2435Ile) single nucleotide variant not specified [RCV004609086] Chr1:225265263 [GRCh38]
Chr1:225452965 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8279T>C (p.Ile2760Thr) single nucleotide variant not specified [RCV004609105] Chr1:225289892 [GRCh38]
Chr1:225477594 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9762A>C (p.Lys3254Asn) single nucleotide variant not specified [RCV004609115] Chr1:225331475 [GRCh38]
Chr1:225519177 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5331A>G (p.Ile1777Met) single nucleotide variant not specified [RCV004609118] Chr1:225159371 [GRCh38]
Chr1:225347073 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4822G>A (p.Val1608Ile) single nucleotide variant not specified [RCV004609122] Chr1:225147131 [GRCh38]
Chr1:225334833 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4289G>C (p.Ser1430Thr) single nucleotide variant not provided [RCV003319698] Chr1:225140802 [GRCh38]
Chr1:225328504 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13604G>A (p.Cys4535Tyr) single nucleotide variant not provided [RCV003323098] Chr1:225398632 [GRCh38]
Chr1:225586334 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9325G>A (p.Ala3109Thr) single nucleotide variant not provided [RCV003318873] Chr1:225318667 [GRCh38]
Chr1:225506369 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.610T>A (p.Cys204Ser) single nucleotide variant not provided [RCV003325019] Chr1:224967542 [GRCh38]
Chr1:225155244 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5905T>G (p.Ser1969Ala) single nucleotide variant not specified [RCV004310314] Chr1:225204201 [GRCh38]
Chr1:225391903 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8345G>T (p.Arg2782Leu) single nucleotide variant not specified [RCV004312330] Chr1:225289958 [GRCh38]
Chr1:225477660 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5977+3_5977+6del deletion not provided [RCV003319602] Chr1:225204273..225204276 [GRCh38]
Chr1:225391975..225391978 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9628-1G>A single nucleotide variant not provided [RCV003319837] Chr1:225324736 [GRCh38]
Chr1:225512438 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9808G>A (p.Ala3270Thr) single nucleotide variant not provided [RCV003318836] Chr1:225331521 [GRCh38]
Chr1:225519223 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12627dup (p.Arg4210fs) duplication not provided [RCV003328944] Chr1:225377346..225377347 [GRCh38]
Chr1:225565048..225565049 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9637C>T (p.Pro3213Ser) single nucleotide variant not provided [RCV003325688] Chr1:225324746 [GRCh38]
Chr1:225512448 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9185_9188del (p.Lys3062fs) deletion not provided [RCV003330039] Chr1:225308354..225308357 [GRCh38]
Chr1:225496056..225496059 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11350_11352del (p.Trp3784del) deletion not provided [RCV003325806] Chr1:225351698..225351700 [GRCh38]
Chr1:225539400..225539402 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.410G>A (p.Arg137Gln) single nucleotide variant not specified [RCV004340904] Chr1:224964521 [GRCh38]
Chr1:225152223 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6742C>G (p.Gln2248Glu) single nucleotide variant not specified [RCV004340908] Chr1:225240816 [GRCh38]
Chr1:225428518 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10877T>C (p.Met3626Thr) single nucleotide variant not specified [RCV004345695] Chr1:225346160 [GRCh38]
Chr1:225533862 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12103T>A (p.Ser4035Thr) single nucleotide variant not provided [RCV003387703] Chr1:225367817 [GRCh38]
Chr1:225555519 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11594T>C (p.Leu3865Pro) single nucleotide variant not specified [RCV004354872] Chr1:225353863 [GRCh38]
Chr1:225541565 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10841A>G (p.Tyr3614Cys) single nucleotide variant not specified [RCV004355906] Chr1:225346124 [GRCh38]
Chr1:225533826 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3355G>C (p.Asp1119His) single nucleotide variant not specified [RCV004351760] Chr1:225085571 [GRCh38]
Chr1:225273273 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12367T>C (p.Ser4123Pro) single nucleotide variant not specified [RCV004353046] Chr1:225374736 [GRCh38]
Chr1:225562438 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.5017G>A (p.Gly1673Ser) single nucleotide variant not specified [RCV004349992] Chr1:225152704 [GRCh38]
Chr1:225340406 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2095A>G (p.Thr699Ala) single nucleotide variant not specified [RCV004352932] Chr1:225051466 [GRCh38]
Chr1:225239168 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3488C>T (p.Ser1163Phe) single nucleotide variant not specified [RCV004347402] Chr1:225085704 [GRCh38]
Chr1:225273406 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8501T>C (p.Ile2834Thr) single nucleotide variant not provided [RCV004723293]|not specified [RCV004360724] Chr1:225300900 [GRCh38]
Chr1:225488602 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8939A>G (p.Tyr2980Cys) single nucleotide variant not specified [RCV004348873] Chr1:225305023 [GRCh38]
Chr1:225492725 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6370G>A (p.Val2124Ile) single nucleotide variant not specified [RCV004344005] Chr1:225207151 [GRCh38]
Chr1:225394853 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.3184G>C (p.Glu1062Gln) single nucleotide variant not specified [RCV004358535] Chr1:225082596 [GRCh38]
Chr1:225270298 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.12(chr1:225217641-225271723)x1 copy number loss not provided [RCV003484066] Chr1:225217641..225271723 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter) single nucleotide variant Neurodevelopmental disorder [RCV003482203] Chr1:225100714 [GRCh38]
Chr1:225288416 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_001367479.1(DNAH14):c.7775G>A (p.Arg2592His) single nucleotide variant not provided [RCV003443957] Chr1:225272009 [GRCh38]
Chr1:225459711 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2845G>A (p.Ala949Thr) single nucleotide variant not provided [RCV003441399] Chr1:225080457 [GRCh38]
Chr1:225268159 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.440C>T (p.Pro147Leu) single nucleotide variant not provided [RCV003414811] Chr1:224964551 [GRCh38]
Chr1:225152253 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.749A>G (p.Lys250Arg) single nucleotide variant not provided [RCV003414812] Chr1:224968856 [GRCh38]
Chr1:225156558 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.1005T>C (p.Asp335=) single nucleotide variant not provided [RCV003414813] Chr1:225007442 [GRCh38]
Chr1:225195144 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.1258C>G (p.Arg420Gly) single nucleotide variant not provided [RCV003414814] Chr1:225023765 [GRCh38]
Chr1:225211467 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.1867del (p.Ser623fs) deletion DNAH14-related disorder [RCV004757586]|not provided [RCV003414815] Chr1:225043935 [GRCh38]
Chr1:225231637 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.3113A>T (p.His1038Leu) single nucleotide variant not provided [RCV003414816] Chr1:225080725 [GRCh38]
Chr1:225268427 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.3310A>T (p.Asn1104Tyr) single nucleotide variant not provided [RCV003414817] Chr1:225082722 [GRCh38]
Chr1:225270424 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.3397del (p.Met1133fs) deletion DNAH14-related disorder [RCV003929012]|not provided [RCV003414818] Chr1:225085608 [GRCh38]
Chr1:225273310 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_001367479.1(DNAH14):c.4694G>A (p.Gly1565Asp) single nucleotide variant not provided [RCV003414819] Chr1:225144582 [GRCh38]
Chr1:225332284 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5021G>A (p.Gly1674Glu) single nucleotide variant not provided [RCV003414820] Chr1:225152708 [GRCh38]
Chr1:225340410 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.5837A>G (p.Lys1946Arg) single nucleotide variant not provided [RCV003414821] Chr1:225192862 [GRCh38]
Chr1:225380564 [GRCh37]
Chr1:1q42.12		 benign
NM_001367479.1(DNAH14):c.6401del (p.Phe2134fs) deletion not provided [RCV003414822] Chr1:225207180 [GRCh38]
Chr1:225394882 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10966G>C (p.Glu3656Gln) single nucleotide variant not provided [RCV003414823] Chr1:225346249 [GRCh38]
Chr1:225533951 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11534-6A>G single nucleotide variant not provided [RCV003414824] Chr1:225353797 [GRCh38]
Chr1:225541499 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11562G>A (p.Thr3854=) single nucleotide variant not provided [RCV003414825] Chr1:225353831 [GRCh38]
Chr1:225541533 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.12478G>A (p.Glu4160Lys) single nucleotide variant not provided [RCV003414826] Chr1:225374847 [GRCh38]
Chr1:225562549 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.12717-5dup duplication not provided [RCV003414827] Chr1:225380146..225380147 [GRCh38]
Chr1:225567848..225567849 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.13480del (p.Arg4494fs) deletion not provided [RCV003414829] Chr1:225392440 [GRCh38]
Chr1:225580142 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13558C>T (p.Arg4520Cys) single nucleotide variant not provided [RCV003414830] Chr1:225398586 [GRCh38]
Chr1:225586288 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13690G>A (p.Ala4564Thr) single nucleotide variant DNAH14-related disorder [RCV003919077]|not provided [RCV003414831] Chr1:225399105 [GRCh38]
Chr1:225586807 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.13854A>T (p.Ter4618Tyr) single nucleotide variant DNAH14-related disorder [RCV003929013]|not provided [RCV003414832] Chr1:225399269 [GRCh38]
Chr1:225586971 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.12885C>T (p.His4295=) single nucleotide variant not provided [RCV003414828] Chr1:225381387 [GRCh38]
Chr1:225569089 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.1972A>T (p.Ile658Leu) single nucleotide variant not provided [RCV003442587] Chr1:225050269 [GRCh38]
Chr1:225237971 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.862dup (p.Asp288fs) duplication not provided [RCV003490702] Chr1:225002813..225002814 [GRCh38]
Chr1:225190515..225190516 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3248G>A (p.Trp1083Ter) single nucleotide variant not provided [RCV003490703] Chr1:225082660 [GRCh38]
Chr1:225270362 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.857T>A (p.Leu286Ter) single nucleotide variant not provided [RCV003490704] Chr1:225002809 [GRCh38]
Chr1:225190511 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.767+2T>C single nucleotide variant not provided [RCV003740652] Chr1:224968876 [GRCh38]
Chr1:225156578 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.846_847delinsAT (p.His282_His283delinsGlnTyr) indel not provided [RCV003542569] Chr1:225002798..225002799 [GRCh38]
Chr1:225190500..225190501 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11240dup (p.Leu3747fs) duplication DNAH14-related disorder [RCV004757593]|not provided [RCV003542570] Chr1:225346593..225346594 [GRCh38]
Chr1:225534295..225534296 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6568dup (p.Ile2190fs) duplication DNAH14-related disorder [RCV003941807] Chr1:225240637..225240638 [GRCh38]
Chr1:225428339..225428340 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.7408C>G (p.Arg2470Gly) single nucleotide variant not provided [RCV003885004] Chr1:225265367 [GRCh38]
Chr1:225453069 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.55G>T (p.Glu19Ter) single nucleotide variant DNAH14-related disorder [RCV003903918] Chr1:224952757 [GRCh38]
Chr1:225140459 [GRCh37]
Chr1:1q42.12		 likely benign
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1 copy number loss not provided [RCV004442774] Chr1:216147522..226765691 [GRCh37]
Chr1:1q41-42.12		 pathogenic
NM_001367479.1(DNAH14):c.12571C>T (p.Gln4191Ter) single nucleotide variant DNAH14-related disorder [RCV003896548] Chr1:225377291 [GRCh38]
Chr1:225564993 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.651+1G>A single nucleotide variant DNAH14-related disorder [RCV003979107] Chr1:224967584 [GRCh38]
Chr1:225155286 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.4255-50TA[7] microsatellite DNAH14-related disorder [RCV003932017] Chr1:225140717..225140718 [GRCh38]
Chr1:225328419..225328420 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.2113A>G (p.Met705Val) single nucleotide variant DNAH14-related disorder [RCV003959094] Chr1:225051484 [GRCh38]
Chr1:225239186 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.7133_7137del (p.Leu2377_Leu2378insTer) deletion not provided [RCV004555025] Chr1:225259226..225259230 [GRCh38]
Chr1:225446928..225446932 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.295A>G (p.Arg99Gly) single nucleotide variant DNAH14-related disorder [RCV003969310]|not provided [RCV004767512] Chr1:224960230 [GRCh38]
Chr1:225147932 [GRCh37]
Chr1:1q42.12		 likely benign|uncertain significance
NM_001367479.1(DNAH14):c.9826T>C (p.Cys3276Arg) single nucleotide variant not specified [RCV004376476] Chr1:225331539 [GRCh38]
Chr1:225519241 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13498G>A (p.Ala4500Thr) single nucleotide variant not provided [RCV003993188] Chr1:225398526 [GRCh38]
Chr1:225586228 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11068A>G (p.Ile3690Val) single nucleotide variant not specified [RCV004376414] Chr1:225346351 [GRCh38]
Chr1:225534053 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12413G>A (p.Gly4138Asp) single nucleotide variant not specified [RCV004376420] Chr1:225374782 [GRCh38]
Chr1:225562484 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12500G>A (p.Ser4167Asn) single nucleotide variant not specified [RCV004376424] Chr1:225374869 [GRCh38]
Chr1:225562571 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13621T>C (p.Tyr4541His) single nucleotide variant not specified [RCV004376431] Chr1:225398649 [GRCh38]
Chr1:225586351 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.2348A>T (p.Tyr783Phe) single nucleotide variant not specified [RCV004376437] Chr1:225051719 [GRCh38]
Chr1:225239421 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2627T>C (p.Leu876Pro) single nucleotide variant not specified [RCV004376440] Chr1:225079409 [GRCh38]
Chr1:225267111 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2975T>C (p.Ile992Thr) single nucleotide variant not specified [RCV004376442] Chr1:225080587 [GRCh38]
Chr1:225268289 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3347A>C (p.Glu1116Ala) single nucleotide variant not specified [RCV004376444] Chr1:225085563 [GRCh38]
Chr1:225273265 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4142A>C (p.Lys1381Thr) single nucleotide variant not specified [RCV004376449] Chr1:225119270 [GRCh38]
Chr1:225306972 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4541A>T (p.Lys1514Met) single nucleotide variant not specified [RCV004376451] Chr1:225144429 [GRCh38]
Chr1:225332131 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4601G>C (p.Cys1534Ser) single nucleotide variant not specified [RCV004376452] Chr1:225144489 [GRCh38]
Chr1:225332191 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8332A>G (p.Asn2778Asp) single nucleotide variant not specified [RCV004376469] Chr1:225289945 [GRCh38]
Chr1:225477647 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9686G>T (p.Arg3229Leu) single nucleotide variant not specified [RCV004376475] Chr1:225324795 [GRCh38]
Chr1:225512497 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2028A>G (p.Arg676=) single nucleotide variant DNAH14-related disorder [RCV003893871] Chr1:225050325 [GRCh38]
Chr1:225238027 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.10342A>G (p.Lys3448Glu) single nucleotide variant not specified [RCV004376407] Chr1:225338091 [GRCh38]
Chr1:225525793 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10753C>T (p.Arg3585Cys) single nucleotide variant not specified [RCV004376410] Chr1:225346036 [GRCh38]
Chr1:225533738 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10955G>C (p.Ser3652Thr) single nucleotide variant not specified [RCV004376411] Chr1:225346238 [GRCh38]
Chr1:225533940 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11063G>A (p.Ser3688Asn) single nucleotide variant not specified [RCV004376413] Chr1:225346346 [GRCh38]
Chr1:225534048 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.11137T>A (p.Phe3713Ile) single nucleotide variant not specified [RCV004376415] Chr1:225346495 [GRCh38]
Chr1:225534197 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12238A>T (p.Asn4080Tyr) single nucleotide variant not specified [RCV004376419] Chr1:225367952 [GRCh38]
Chr1:225555654 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12416G>A (p.Arg4139Gln) single nucleotide variant not specified [RCV004376421] Chr1:225374785 [GRCh38]
Chr1:225562487 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12422T>C (p.Ile4141Thr) single nucleotide variant not specified [RCV004376422] Chr1:225374791 [GRCh38]
Chr1:225562493 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.12458T>C (p.Leu4153Pro) single nucleotide variant not specified [RCV004376423] Chr1:225374827 [GRCh38]
Chr1:225562529 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12644C>A (p.Thr4215Asn) single nucleotide variant not specified [RCV004376425] Chr1:225377364 [GRCh38]
Chr1:225565066 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13084G>A (p.Ala4362Thr) single nucleotide variant not specified [RCV004376427] Chr1:225388385 [GRCh38]
Chr1:225576087 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13370G>A (p.Arg4457Gln) single nucleotide variant not specified [RCV004376428] Chr1:225392330 [GRCh38]
Chr1:225580032 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.13502C>T (p.Ser4501Phe) single nucleotide variant not specified [RCV004376430] Chr1:225398530 [GRCh38]
Chr1:225586232 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13636A>C (p.Lys4546Gln) single nucleotide variant not specified [RCV004376432] Chr1:225398664 [GRCh38]
Chr1:225586366 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11375C>T (p.Thr3792Ile) single nucleotide variant not specified [RCV004376416] Chr1:225351725 [GRCh38]
Chr1:225539427 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6013G>T (p.Val2005Leu) single nucleotide variant not specified [RCV004376460] Chr1:225206006 [GRCh38]
Chr1:225393708 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.692T>C (p.Ile231Thr) single nucleotide variant not specified [RCV004376464] Chr1:224968799 [GRCh38]
Chr1:225156501 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9143G>A (p.Arg3048Gln) single nucleotide variant not specified [RCV004376472] Chr1:225308313 [GRCh38]
Chr1:225496015 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.9532G>A (p.Asp3178Asn) single nucleotide variant not specified [RCV004376474] Chr1:225324258 [GRCh38]
Chr1:225511960 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10712C>T (p.Thr3571Ile) single nucleotide variant not specified [RCV004376408] Chr1:225345995 [GRCh38]
Chr1:225533697 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.11005A>G (p.Ile3669Val) single nucleotide variant not specified [RCV004376412] Chr1:225346288 [GRCh38]
Chr1:225533990 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11780T>C (p.Ile3927Thr) single nucleotide variant not specified [RCV004376417] Chr1:225360684 [GRCh38]
Chr1:225548386 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2357A>G (p.Asn786Ser) single nucleotide variant not specified [RCV004376439] Chr1:225051728 [GRCh38]
Chr1:225239430 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2990C>T (p.Thr997Ile) single nucleotide variant not specified [RCV004376443] Chr1:225080602 [GRCh38]
Chr1:225268304 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4967G>A (p.Arg1656His) single nucleotide variant not specified [RCV004376453] Chr1:225152031 [GRCh38]
Chr1:225339733 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5057G>A (p.Arg1686His) single nucleotide variant not specified [RCV004376454] Chr1:225152744 [GRCh38]
Chr1:225340446 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5104A>C (p.Ile1702Leu) single nucleotide variant not specified [RCV004376455] Chr1:225152791 [GRCh38]
Chr1:225340493 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1613A>C (p.His538Pro) single nucleotide variant not specified [RCV004376434] Chr1:225042959 [GRCh38]
Chr1:225230661 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1918A>G (p.Ile640Val) single nucleotide variant not specified [RCV004376436] Chr1:225050215 [GRCh38]
Chr1:225237917 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2354A>G (p.Asp785Gly) single nucleotide variant not specified [RCV004376438] Chr1:225051725 [GRCh38]
Chr1:225239427 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3353A>G (p.Asn1118Ser) single nucleotide variant not specified [RCV004376445] Chr1:225085569 [GRCh38]
Chr1:225273271 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.341C>T (p.Ala114Val) single nucleotide variant not specified [RCV004376446] Chr1:224960276 [GRCh38]
Chr1:225147978 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3731T>A (p.Val1244Glu) single nucleotide variant not specified [RCV004376447] Chr1:225100748 [GRCh38]
Chr1:225288450 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3879A>T (p.Glu1293Asp) single nucleotide variant not specified [RCV004376448] Chr1:225117695 [GRCh38]
Chr1:225305397 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4152C>A (p.Phe1384Leu) single nucleotide variant not provided [RCV004767525]|not specified [RCV004376450] Chr1:225119280 [GRCh38]
Chr1:225306982 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5206A>G (p.Asn1736Asp) single nucleotide variant not specified [RCV004376456] Chr1:225153759 [GRCh38]
Chr1:225341461 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.5896C>T (p.Leu1966Phe) single nucleotide variant not specified [RCV004376458] Chr1:225204192 [GRCh38]
Chr1:225391894 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6169T>G (p.Cys2057Gly) single nucleotide variant not specified [RCV004376461] Chr1:225206162 [GRCh38]
Chr1:225393864 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6272G>T (p.Cys2091Phe) single nucleotide variant not provided [RCV004767526]|not specified [RCV004376462] Chr1:225207053 [GRCh38]
Chr1:225394755 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.649A>G (p.Lys217Glu) single nucleotide variant not specified [RCV004376463] Chr1:224967581 [GRCh38]
Chr1:225155283 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7268T>G (p.Leu2423Arg) single nucleotide variant not specified [RCV004376465] Chr1:225265227 [GRCh38]
Chr1:225452929 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7294G>A (p.Val2432Ile) single nucleotide variant not specified [RCV004376466] Chr1:225265253 [GRCh38]
Chr1:225452955 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.7378A>G (p.Lys2460Glu) single nucleotide variant not specified [RCV004376467] Chr1:225265337 [GRCh38]
Chr1:225453039 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7603C>T (p.Leu2535Phe) single nucleotide variant not specified [RCV004376468] Chr1:225270798 [GRCh38]
Chr1:225458500 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8425G>A (p.Gly2809Arg) single nucleotide variant not specified [RCV004376470] Chr1:225290038 [GRCh38]
Chr1:225477740 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9346C>T (p.Arg3116Trp) single nucleotide variant not specified [RCV004376473] Chr1:225322674 [GRCh38]
Chr1:225510376 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10730T>C (p.Met3577Thr) single nucleotide variant not specified [RCV004376409] Chr1:225346013 [GRCh38]
Chr1:225533715 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12050A>G (p.Tyr4017Cys) single nucleotide variant not specified [RCV004376418] Chr1:225364854 [GRCh38]
Chr1:225552556 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12836T>G (p.Met4279Arg) single nucleotide variant not specified [RCV004376426] Chr1:225380278 [GRCh38]
Chr1:225567980 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13436A>G (p.Glu4479Gly) single nucleotide variant not specified [RCV004376429] Chr1:225392396 [GRCh38]
Chr1:225580098 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1441A>C (p.Ile481Leu) single nucleotide variant not specified [RCV004376433] Chr1:225038776 [GRCh38]
Chr1:225226478 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1760T>C (p.Ile587Thr) single nucleotide variant not specified [RCV004376435] Chr1:225043106 [GRCh38]
Chr1:225230808 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2652A>T (p.Lys884Asn) single nucleotide variant not specified [RCV004376441] Chr1:225079434 [GRCh38]
Chr1:225267136 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5927A>G (p.Asp1976Gly) single nucleotide variant not specified [RCV004376459] Chr1:225204223 [GRCh38]
Chr1:225391925 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8788T>C (p.Phe2930Leu) single nucleotide variant not specified [RCV004376471] Chr1:225303312 [GRCh38]
Chr1:225491014 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11134T>C (p.Cys3712Arg) single nucleotide variant DNAH14-related neurodevelopmental disorder [RCV004560448] Chr1:225346492 [GRCh38]
Chr1:225534194 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5120del (p.Gly1707fs) deletion DNAH14-related neurodevelopmental disorder [RCV004560502] Chr1:225152806 [GRCh38]
Chr1:225340508 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7882T>C (p.Ser2628Pro) single nucleotide variant not specified [RCV004609120] Chr1:225272997 [GRCh38]
Chr1:225460699 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8344C>T (p.Arg2782Ter) single nucleotide variant not provided [RCV004590584] Chr1:225289957 [GRCh38]
Chr1:225477659 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3898C>G (p.Pro1300Ala) single nucleotide variant not specified [RCV004609091] Chr1:225117714 [GRCh38]
Chr1:225305416 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13598T>C (p.Met4533Thr) single nucleotide variant not specified [RCV004609095] Chr1:225398626 [GRCh38]
Chr1:225586328 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2279T>C (p.Met760Thr) single nucleotide variant not specified [RCV004609099] Chr1:225051650 [GRCh38]
Chr1:225239352 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4823T>A (p.Val1608Asp) single nucleotide variant not specified [RCV004609109] Chr1:225147132 [GRCh38]
Chr1:225334834 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6441T>A (p.Ser2147Arg) single nucleotide variant not specified [RCV004609110] Chr1:225231074 [GRCh38]
Chr1:225418776 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12859T>C (p.Ser4287Pro) single nucleotide variant not specified [RCV004609111] Chr1:225380301 [GRCh38]
Chr1:225568003 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8755C>T (p.Pro2919Ser) single nucleotide variant not specified [RCV004609112] Chr1:225303279 [GRCh38]
Chr1:225490981 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.7981C>T (p.Leu2661Phe) single nucleotide variant not provided [RCV004772294] Chr1:225273096 [GRCh38]
Chr1:225460798 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13475_13478del (p.Val4492fs) deletion not provided [RCV004770935] Chr1:225392433..225392436 [GRCh38]
Chr1:225580135..225580138 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12423_12426dup (p.Asn4143Ter) microsatellite not provided [RCV004770936] Chr1:225374787..225374788 [GRCh38]
Chr1:225562489..225562490 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1013G>A (p.Cys338Tyr) single nucleotide variant not provided [RCV004760880]   uncertain significance
NM_001367479.1(DNAH14):c.3500T>C (p.Ile1167Thr) single nucleotide variant not provided [RCV004760881]   uncertain significance
NM_001367479.1(DNAH14):c.9097G>A (p.Val3033Ile) single nucleotide variant not provided [RCV004729551] Chr1:225307552 [GRCh38]
Chr1:225495254 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1769-2A>T single nucleotide variant not provided [RCV004773341] Chr1:225043742 [GRCh38]
Chr1:225231444 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13639-2del deletion not provided [RCV004729566] Chr1:225399050 [GRCh38]
Chr1:225586752 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.6013G>A (p.Val2005Met) single nucleotide variant not provided [RCV004768419] Chr1:225206006 [GRCh38]
Chr1:225393708 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5582C>A (p.Thr1861Lys) single nucleotide variant not provided [RCV004768420] Chr1:225185337 [GRCh38]
Chr1:225373039 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12613C>T (p.His4205Tyr) single nucleotide variant not provided [RCV004725744] Chr1:225377333 [GRCh38]
Chr1:225565035 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12392_12397delinsCTGGAT (p.Ile4131_Glu4133delinsThrGlyTer) indel not provided [RCV004766109] Chr1:225374761..225374766 [GRCh38]
Chr1:225562463..225562468 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13090A>G (p.Arg4364Gly) single nucleotide variant not provided [RCV004726177] Chr1:225388391 [GRCh38]
Chr1:225576093 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11401T>C (p.Cys3801Arg) single nucleotide variant not provided [RCV004772047] Chr1:225351751 [GRCh38]
Chr1:225539453 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5196+2T>C single nucleotide variant not provided [RCV004769062] Chr1:225152885 [GRCh38]
Chr1:225340587 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2072A>G (p.Gln691Arg) single nucleotide variant not provided [RCV004774159] Chr1:225050369 [GRCh38]
Chr1:225238071 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13274A>G (p.Asn4425Ser) single nucleotide variant not provided [RCV004774160] Chr1:225389817 [GRCh38]
Chr1:225577519 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12166A>C (p.Thr4056Pro) single nucleotide variant not provided [RCV004769262] Chr1:225367880 [GRCh38]
Chr1:225555582 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.9938C>G (p.Ala3313Gly) single nucleotide variant not provided [RCV004769429] Chr1:225333364 [GRCh38]
Chr1:225521066 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2557C>T (p.Gln853Ter) single nucleotide variant not provided [RCV004771883] Chr1:225079339 [GRCh38]
Chr1:225267041 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13829T>C (p.Leu4610Ser) single nucleotide variant not provided [RCV004729260] Chr1:225399244 [GRCh38]
Chr1:225586946 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.368-3C>G single nucleotide variant not provided [RCV004770461] Chr1:224964476 [GRCh38]
Chr1:225152178 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2020C>T (p.Gln674Ter) single nucleotide variant not provided [RCV004775968] Chr1:225050317 [GRCh38]
Chr1:225238019 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.207_208del (p.Lys70fs) microsatellite not provided [RCV004769958] Chr1:224955085..224955086 [GRCh38]
Chr1:225142787..225142788 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4805_4806del (p.Lys1602fs) deletion not provided [RCV004776129] Chr1:225147112..225147113 [GRCh38]
Chr1:225334814..225334815 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13600T>G (p.Cys4534Gly) single nucleotide variant not provided [RCV004776130] Chr1:225398628 [GRCh38]
Chr1:225586330 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2456del (p.Cys819fs) deletion not provided [RCV004772368] Chr1:225079238 [GRCh38]
Chr1:225266940 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.12218T>G (p.Leu4073Ter) single nucleotide variant not provided [RCV004761080]   uncertain significance
NM_001367479.1(DNAH14):c.2115G>A (p.Met705Ile) single nucleotide variant not provided [RCV004768371] Chr1:225051486 [GRCh38]
Chr1:225239188 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.767+10A>G single nucleotide variant DNAH14-related disorder [RCV004757636] Chr1:224968884 [GRCh38]
Chr1:225156586 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.4443C>A (p.Cys1481Ter) single nucleotide variant DNAH14-related disorder [RCV004757739] Chr1:225140956 [GRCh38]
Chr1:225328658 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.10450G>T (p.Glu3484Ter) single nucleotide variant DNAH14-related disorder [RCV004757763] Chr1:225340473 [GRCh38]
Chr1:225528175 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001367479.1(DNAH14):c.8437G>C (p.Val2813Leu) single nucleotide variant not provided [RCV004772118] Chr1:225290050 [GRCh38]
Chr1:225477752 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.442C>G (p.Gln148Glu) single nucleotide variant not provided [RCV004775243] Chr1:224964553 [GRCh38]
Chr1:225152255 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.1255A>T (p.Ile419Phe) single nucleotide variant not provided [RCV004770777] Chr1:225023762 [GRCh38]
Chr1:225211464 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.5713C>A (p.Pro1905Thr) single nucleotide variant not provided [RCV004725903] Chr1:225192738 [GRCh38]
Chr1:225380440 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.13639-5T>A single nucleotide variant not provided [RCV004771310] Chr1:225399049 [GRCh38]
Chr1:225586751 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.11422G>A (p.Val3808Ile) single nucleotide variant not provided [RCV004729275] Chr1:225351772 [GRCh38]
Chr1:225539474 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.3088C>G (p.Gln1030Glu) single nucleotide variant not provided [RCV004773765] Chr1:225080700 [GRCh38]
Chr1:225268402 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.2434T>C (p.Ser812Pro) single nucleotide variant not provided [RCV004773770] Chr1:225079216 [GRCh38]
Chr1:225266918 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001367479.1(DNAH14):c.8981G>A (p.Arg2994Gln) single nucleotide variant not provided [RCV004769061] Chr1:225305065 [GRCh38]
Chr1:225492767 [GRCh37]
Chr1:1q42.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3235
Count of miRNA genes:1171
Interacting mature miRNAs:1455
Transcripts:ENST00000327794, ENST00000328556, ENST00000366848, ENST00000366849, ENST00000366850, ENST00000400952, ENST00000413949, ENST00000428003, ENST00000430092, ENST00000433124, ENST00000439375, ENST00000445597, ENST00000450490, ENST00000453375, ENST00000474127, ENST00000474801, ENST00000486657, ENST00000495456, ENST00000498360
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407084034GWAS733010_Hfeeling nervous measurement QTL GWAS733010 (human)3e-09feeling nervous measurement1225370787225370788Human
406936841GWAS585817_Hsmoking initiation QTL GWAS585817 (human)6e-10smoking initiation1225140728225140729Human
407081643GWAS730619_Hbody mass index QTL GWAS730619 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)1225373644225373645Human
407301710GWAS950686_Hprostate cancer QTL GWAS950686 (human)0.000002prostate cancer1225259079225259080Human
407230508GWAS879484_Hbone density QTL GWAS879484 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1225229739225229740Human
407394755GWAS1043731_Hurate measurement, bone density QTL GWAS1043731 (human)3e-13bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1225182071225182072Human
406980114GWAS629090_Hgut microbiome measurement QTL GWAS629090 (human)0.000003gut microbiome measurement1224968755224968756Human
407078610GWAS727586_Hnon-lobar intracerebral hemorrhage QTL GWAS727586 (human)0.000009non-lobar intracerebral hemorrhage1225379086225379087Human
407230513GWAS879489_Hbone density QTL GWAS879489 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1225237773225237774Human
407325916GWAS974892_HAlzheimer disease, polygenic risk score QTL GWAS974892 (human)1e-09Alzheimer disease, polygenic risk score1225361310225361311Human
406932061GWAS581037_Hleukocyte count, response to water QTL GWAS581037 (human)7e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)1225392216225392217Human
406988252GWAS637228_Hbody height QTL GWAS637228 (human)3e-08body lean mass (VT:0010483)total body lean mass (CMO:0003950)1225373644225373645Human
407254744GWAS903720_HX-12063 measurement QTL GWAS903720 (human)4e-08X-12063 measurement1225049756225049757Human
407391702GWAS1040678_Hheel bone mineral density, urate measurement QTL GWAS1040678 (human)6e-09heel bone mineral density, urate measurementblood uric acid level (CMO:0000501)1225092776225092777Human
406994301GWAS643277_Hadolescent idiopathic scoliosis QTL GWAS643277 (human)9e-08adolescent idiopathic scoliosis1225374683225374684Human

Markers in Region
AL009971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,236,474 - 225,236,596UniSTSGRCh37
Build 361223,303,097 - 223,303,219RGDNCBI36
Celera1198,427,078 - 198,427,200RGD
Cytogenetic Map1q42.12UniSTS
HuRef1195,755,396 - 195,755,518UniSTS
RH94064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,227,058 - 225,227,239UniSTSGRCh37
Build 361223,293,681 - 223,293,862RGDNCBI36
Celera1198,417,663 - 198,417,844RGD
Cytogenetic Map1q42.12UniSTS
HuRef1195,745,515 - 195,745,695UniSTS
GeneMap99-GB4 RH Map1716.95UniSTS
RH92036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,305,688 - 225,305,812UniSTSGRCh37
Build 361223,372,311 - 223,372,435RGDNCBI36
Celera1198,496,075 - 198,496,199RGD
Cytogenetic Map1q42.12UniSTS
HuRef1195,824,384 - 195,824,508UniSTS
GeneMap99-GB4 RH Map1716.95UniSTS
AL033643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,532,894 - 225,533,066UniSTSGRCh37
Build 361223,599,517 - 223,599,689RGDNCBI36
Celera1198,723,495 - 198,723,667RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,051,846 - 196,052,018UniSTS
SHGC-82269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,540,294 - 225,540,573UniSTSGRCh37
Build 361223,606,917 - 223,607,196RGDNCBI36
Celera1198,730,895 - 198,731,174RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,059,237 - 196,059,516UniSTS
TNG Radiation Hybrid Map1112283.0UniSTS
RH123020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,565,774 - 225,566,044UniSTSGRCh37
Build 361223,632,397 - 223,632,667RGDNCBI36
Celera1198,756,374 - 198,756,644RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,084,734 - 196,085,004UniSTS
TNG Radiation Hybrid Map1112291.0UniSTS
G66815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,329,414 - 225,329,699UniSTSGRCh37
Build 361223,396,037 - 223,396,322RGDNCBI36
Celera1198,519,801 - 198,520,086RGD
Cytogenetic Map1q42.12UniSTS
HuRef1195,848,103 - 195,848,388UniSTS
TNG Radiation Hybrid Map1112139.0UniSTS
SHGC-111097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,566,638 - 225,566,960UniSTSGRCh37
Build 361223,633,261 - 223,633,583RGDNCBI36
Celera1198,757,239 - 198,757,561RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,085,600 - 196,085,922UniSTS
TNG Radiation Hybrid Map1112291.0UniSTS
SHGC-111509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,253,148 - 225,253,249UniSTSGRCh37
Build 361223,319,771 - 223,319,872RGDNCBI36
Celera1198,443,741 - 198,443,842RGD
Cytogenetic Map1q42.12UniSTS
HuRef1195,772,052 - 195,772,153UniSTS
TNG Radiation Hybrid Map1112107.0UniSTS
MGC27277__7697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,211,657 - 225,212,403UniSTSGRCh37
Build 361223,278,280 - 223,279,026RGDNCBI36
Celera1198,402,286 - 198,403,032RGD
HuRef1195,730,137 - 195,730,883UniSTS
AL009316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,507,928 - 225,508,086UniSTSGRCh37
Build 361223,574,551 - 223,574,709RGDNCBI36
Celera1198,698,312 - 198,698,470RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,026,642 - 196,026,800UniSTS
AL009836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,506,162 - 225,506,282UniSTSGRCh37
Build 361223,572,785 - 223,572,905RGDNCBI36
Celera1198,696,546 - 198,696,666RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,024,876 - 196,024,996UniSTS
AL010084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,329,213 - 225,329,365UniSTSGRCh37
Build 361223,395,836 - 223,395,988RGDNCBI36
Celera1198,519,600 - 198,519,752RGD
Cytogenetic Map1q42.12UniSTS
HuRef1195,847,902 - 195,848,054UniSTS
AL010017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371225,568,544 - 225,568,696UniSTSGRCh37
Build 361223,635,167 - 223,635,319RGDNCBI36
Celera1198,759,145 - 198,759,297RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,087,506 - 196,087,658UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2424 2727 2220 4941 1725 2348 6 623 1826 463 2269 7095 6324 52 3702 1 848 1741 1615 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001736974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI076810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA389321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN257875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB443048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000327794   ⟹   ENSP00000328980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,240,794 - 225,398,064 (+)Ensembl
Ensembl Acc Id: ENST00000328556   ⟹   ENSP00000332424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,117,957 - 225,144,548 (+)Ensembl
Ensembl Acc Id: ENST00000366848   ⟹   ENSP00000355813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,952,670 - 224,967,924 (+)Ensembl
Ensembl Acc Id: ENST00000366849   ⟹   ENSP00000355814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,929,682 - 225,024,604 (+)Ensembl
Ensembl Acc Id: ENST00000366850   ⟹   ENSP00000355815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,929,661 - 224,967,923 (+)Ensembl
Ensembl Acc Id: ENST00000400952   ⟹   ENSP00000383737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,929,667 - 225,024,289 (+)Ensembl
Ensembl Acc Id: ENST00000428003   ⟹   ENSP00000414699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,389,740 - 225,399,292 (+)Ensembl
Ensembl Acc Id: ENST00000430092   ⟹   ENSP00000414402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,929,654 - 225,399,269 (+)Ensembl
Ensembl Acc Id: ENST00000433124   ⟹   ENSP00000409971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,955,039 - 224,967,924 (+)Ensembl
Ensembl Acc Id: ENST00000439375   ⟹   ENSP00000392061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,952,703 - 225,399,269 (+)Ensembl
Ensembl Acc Id: ENST00000445597   ⟹   ENSP00000409472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,896,262 - 225,399,269 (+)Ensembl
Ensembl Acc Id: ENST00000450490   ⟹   ENSP00000398678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,250,663 - 225,270,796 (+)Ensembl
Ensembl Acc Id: ENST00000453375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,967,440 - 224,969,829 (+)Ensembl
Ensembl Acc Id: ENST00000474127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,967,546 - 224,969,493 (+)Ensembl
Ensembl Acc Id: ENST00000474801   ⟹   ENSP00000429568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,117,684 - 225,118,203 (+)Ensembl
Ensembl Acc Id: ENST00000486657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,952,696 - 224,967,625 (+)Ensembl
Ensembl Acc Id: ENST00000495456   ⟹   ENSP00000429122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,117,971 - 225,145,379 (+)Ensembl
Ensembl Acc Id: ENST00000498360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,929,715 - 224,961,329 (+)Ensembl
Ensembl Acc Id: ENST00000638635   ⟹   ENSP00000492319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,240,794 - 225,351,883 (+)Ensembl
Ensembl Acc Id: ENST00000682510   ⟹   ENSP00000508305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,929,675 - 225,399,286 (+)Ensembl
RefSeq Acc Id: NM_001145154   ⟹   NP_001138626
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,675 - 225,024,604 (+)NCBI
GRCh371225,117,356 - 225,586,996 (+)RGD
Celera1198,307,991 - 198,777,597 (+)RGD
HuRef1195,635,850 - 196,105,957 (+)ENTREZGENE
CHM1_11226,389,914 - 226,484,568 (+)NCBI
T2T-CHM13v2.01224,118,347 - 224,213,270 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349911   ⟹   NP_001336840
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,675 - 225,024,604 (+)NCBI
T2T-CHM13v2.01224,118,347 - 224,213,270 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349912   ⟹   NP_001336841
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,675 - 224,969,787 (+)NCBI
T2T-CHM13v2.01224,118,347 - 224,158,459 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367479   ⟹   NP_001354408
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,675 - 225,399,286 (+)NCBI
T2T-CHM13v2.01224,118,347 - 224,587,576 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367481   ⟹   NP_001354410
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,675 - 224,969,832 (+)NCBI
T2T-CHM13v2.01224,118,347 - 224,158,504 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144989   ⟹   NP_659426
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 224,967,924 (+)NCBI
GRCh371225,117,356 - 225,586,996 (+)RGD
Build 361223,183,986 - 223,222,249 (+)NCBI Archive
Celera1198,307,991 - 198,777,597 (+)RGD
HuRef1195,635,850 - 196,105,957 (+)ENTREZGENE
CHM1_11226,389,921 - 226,428,184 (+)NCBI
T2T-CHM13v2.01224,118,326 - 224,156,596 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711735   ⟹   XP_006711798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544058   ⟹   XP_011542360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544059   ⟹   XP_011542361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544061   ⟹   XP_011542363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544062   ⟹   XP_011542364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544063   ⟹   XP_011542365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544064   ⟹   XP_011542366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544065   ⟹   XP_011542367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544066   ⟹   XP_011542368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544067   ⟹   XP_011542369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544069   ⟹   XP_011542371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544070   ⟹   XP_011542372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544071   ⟹   XP_011542373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544072   ⟹   XP_011542374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544073   ⟹   XP_011542375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,040,187 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544074   ⟹   XP_011542376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,072,173 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544076   ⟹   XP_011542378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,079,462 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544081   ⟹   XP_011542383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,153,748 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000295   ⟹   XP_016855784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000296   ⟹   XP_016855785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000297   ⟹   XP_016855786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000298   ⟹   XP_016855787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,354,785 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000299   ⟹   XP_016855788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,119,220 - 225,399,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445624   ⟹   XP_047301580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,654 - 225,398,589 (+)NCBI
RefSeq Acc Id: XM_047445671   ⟹   XP_047301627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,206,070 - 225,399,286 (+)NCBI
RefSeq Acc Id: XM_054334349   ⟹   XP_054190324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334350   ⟹   XP_054190325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334351   ⟹   XP_054190326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334352   ⟹   XP_054190327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334353   ⟹   XP_054190328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334354   ⟹   XP_054190329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334355   ⟹   XP_054190330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334356   ⟹   XP_054190331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334357   ⟹   XP_054190332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334358   ⟹   XP_054190333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334359   ⟹   XP_054190334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334360   ⟹   XP_054190335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334361   ⟹   XP_054190336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334362   ⟹   XP_054190337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,586,879 (+)NCBI
RefSeq Acc Id: XM_054334363   ⟹   XP_054190338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334364   ⟹   XP_054190339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334365   ⟹   XP_054190340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334366   ⟹   XP_054190341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334367   ⟹   XP_054190342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,228,827 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334368   ⟹   XP_054190343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,118,326 - 224,543,068 (+)NCBI
RefSeq Acc Id: XM_054334369   ⟹   XP_054190344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,260,642 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334370   ⟹   XP_054190345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,267,778 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334371   ⟹   XP_054190346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,307,632 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334372   ⟹   XP_054190347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,342,160 - 224,587,576 (+)NCBI
RefSeq Acc Id: XM_054334373   ⟹   XP_054190348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01224,394,484 - 224,587,576 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001138626 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336840 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336841 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354408 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354410 (Get FASTA)   NCBI Sequence Viewer  
  NP_659426 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711798 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542360 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542361 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542363 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542364 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542365 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542366 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542367 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542368 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542369 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542371 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542372 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542373 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542374 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542375 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542376 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542378 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542383 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855784 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855785 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855786 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855787 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855788 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301580 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301627 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190324 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190325 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190326 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190327 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190330 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190331 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190332 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190333 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190335 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190336 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190337 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190338 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190339 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190340 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190341 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190342 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190343 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190344 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190345 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190346 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190347 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190348 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50705 (Get FASTA)   NCBI Sequence Viewer  
  AAI19717 (Get FASTA)   NCBI Sequence Viewer  
  AAI19718 (Get FASTA)   NCBI Sequence Viewer  
  EAW69734 (Get FASTA)   NCBI Sequence Viewer  
  EAW69735 (Get FASTA)   NCBI Sequence Viewer  
  EAW69736 (Get FASTA)   NCBI Sequence Viewer  
  EAW69737 (Get FASTA)   NCBI Sequence Viewer  
  EAW69738 (Get FASTA)   NCBI Sequence Viewer  
  EAW69739 (Get FASTA)   NCBI Sequence Viewer  
  EAW69740 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000328980.6
  ENSP00000332424.6
  ENSP00000355813.1
  ENSP00000355814
  ENSP00000355814.1
  ENSP00000355815
  ENSP00000355815.3
  ENSP00000383737
  ENSP00000383737.3
  ENSP00000392061.2
  ENSP00000398678.1
  ENSP00000409472.2
  ENSP00000409971.1
  ENSP00000414402
  ENSP00000414402.1
  ENSP00000414699.2
  ENSP00000429122.1
  ENSP00000429568.1
  ENSP00000492319.1
  ENSP00000508305
  ENSP00000508305.1
GenBank Protein Q0VDD8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001138626   ⟸   NM_001145154
- Peptide Label: isoform 2
- UniProtKB: Q0VDD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_659426   ⟸   NM_144989
- Peptide Label: isoform 3
- UniProtKB: Q0VDD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006711798   ⟸   XM_006711735
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542364   ⟸   XM_011544062
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011542369   ⟸   XM_011544067
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011542367   ⟸   XM_011544065
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011542371   ⟸   XM_011544069
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011542366   ⟸   XM_011544064
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011542360   ⟸   XM_011544058
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542365   ⟸   XM_011544063
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011542361   ⟸   XM_011544059
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011542368   ⟸   XM_011544066
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011542363   ⟸   XM_011544061
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542372   ⟸   XM_011544070
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_011542374   ⟸   XM_011544072
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_011542373   ⟸   XM_011544071
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011542375   ⟸   XM_011544073
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_011542376   ⟸   XM_011544074
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_011542378   ⟸   XM_011544076
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: XP_011542383   ⟸   XM_011544081
- Peptide Label: isoform X24
- Sequence:
RefSeq Acc Id: XP_016855785   ⟸   XM_017000296
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016855786   ⟸   XM_017000297
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016855784   ⟸   XM_017000295
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016855787   ⟸   XM_017000298
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016855788   ⟸   XM_017000299
- Peptide Label: isoform X23
- Sequence:
RefSeq Acc Id: NP_001336840   ⟸   NM_001349911
- Peptide Label: isoform 4
- UniProtKB: M9MMK7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336841   ⟸   NM_001349912
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001354408   ⟸   NM_001367479
- Peptide Label: isoform 7
- UniProtKB: A0A804HLD3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354410   ⟸   NM_001367481
- Peptide Label: isoform 6
Ensembl Acc Id: ENSP00000398678   ⟸   ENST00000450490
Ensembl Acc Id: ENSP00000392061   ⟸   ENST00000439375
Ensembl Acc Id: ENSP00000492319   ⟸   ENST00000638635
Ensembl Acc Id: ENSP00000414699   ⟸   ENST00000428003
Ensembl Acc Id: ENSP00000383737   ⟸   ENST00000400952
Ensembl Acc Id: ENSP00000429122   ⟸   ENST00000495456
Ensembl Acc Id: ENSP00000414402   ⟸   ENST00000430092
Ensembl Acc Id: ENSP00000409472   ⟸   ENST00000445597
Ensembl Acc Id: ENSP00000355815   ⟸   ENST00000366850
Ensembl Acc Id: ENSP00000355814   ⟸   ENST00000366849
Ensembl Acc Id: ENSP00000355813   ⟸   ENST00000366848
Ensembl Acc Id: ENSP00000328980   ⟸   ENST00000327794
Ensembl Acc Id: ENSP00000332424   ⟸   ENST00000328556
Ensembl Acc Id: ENSP00000409971   ⟸   ENST00000433124
Ensembl Acc Id: ENSP00000429568   ⟸   ENST00000474801
Ensembl Acc Id: ENSP00000508305   ⟸   ENST00000682510
RefSeq Acc Id: XP_047301580   ⟸   XM_047445624
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047301627   ⟸   XM_047445671
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054190331   ⟸   XM_054334356
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054190336   ⟸   XM_054334361
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054190328   ⟸   XM_054334353
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190334   ⟸   XM_054334359
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054190338   ⟸   XM_054334363
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054190327   ⟸   XM_054334352
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190333   ⟸   XM_054334358
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054190324   ⟸   XM_054334349
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190332   ⟸   XM_054334357
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054190330   ⟸   XM_054334355
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054190325   ⟸   XM_054334350
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190335   ⟸   XM_054334360
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054190329   ⟸   XM_054334354
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054190326   ⟸   XM_054334351
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190339   ⟸   XM_054334364
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054190341   ⟸   XM_054334366
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054190340   ⟸   XM_054334365
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054190337   ⟸   XM_054334362
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054190343   ⟸   XM_054334368
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054190342   ⟸   XM_054334367
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054190344   ⟸   XM_054334369
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054190345   ⟸   XM_054334370
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054190346   ⟸   XM_054334371
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054190347   ⟸   XM_054334372
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054190348   ⟸   XM_054334373
- Peptide Label: isoform X25
Protein Domains
AAA+ ATPase   Dynein heavy chain AAA module D4   Dynein heavy chain ATP-binding dynein motor region   Dynein heavy chain C-terminal   Dynein heavy chain coiled coil stalk   Dynein heavy chain hydrolytic ATP-binding dynein   Dynein heavy chain linker

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q0VDD8-F1-model_v2 AlphaFold Q0VDD8 1-1400 view protein structure
AF-Q0VDD8-F2-model_v2 AlphaFold Q0VDD8 201-1600 view protein structure
AF-Q0VDD8-F3-model_v2 AlphaFold Q0VDD8 401-1800 view protein structure
AF-Q0VDD8-F4-model_v2 AlphaFold Q0VDD8 601-2000 view protein structure
AF-Q0VDD8-F5-model_v2 AlphaFold Q0VDD8 801-2200 view protein structure
AF-Q0VDD8-F6-model_v2 AlphaFold Q0VDD8 1001-2400 view protein structure
AF-Q0VDD8-F7-model_v2 AlphaFold Q0VDD8 1201-2600 view protein structure
AF-Q0VDD8-F8-model_v2 AlphaFold Q0VDD8 1401-2800 view protein structure
AF-Q0VDD8-F9-model_v2 AlphaFold Q0VDD8 1601-3000 view protein structure
AF-Q0VDD8-F10-model_v2 AlphaFold Q0VDD8 1801-3200 view protein structure
AF-Q0VDD8-F11-model_v2 AlphaFold Q0VDD8 2001-3400 view protein structure
AF-Q0VDD8-F12-model_v2 AlphaFold Q0VDD8 2201-3507 view protein structure

Promoters
RGD ID:6859100
Promoter ID:EPDNEW_H2715
Type:initiation region
Name:DNAH14_1
Description:dynein axonemal heavy chain 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2716  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,929,682 - 224,929,742EPDNEW
RGD ID:6859102
Promoter ID:EPDNEW_H2716
Type:initiation region
Name:DNAH14_2
Description:dynein axonemal heavy chain 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2715  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,952,669 - 224,952,729EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2945 AgrOrtholog
COSMIC DNAH14 COSMIC
Ensembl Genes ENSG00000185842 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000327794.10 UniProtKB/TrEMBL
  ENST00000328556.9 UniProtKB/TrEMBL
  ENST00000366848.5 UniProtKB/Swiss-Prot
  ENST00000366849 ENTREZGENE
  ENST00000366849.5 UniProtKB/TrEMBL
  ENST00000366850 ENTREZGENE
  ENST00000366850.7 UniProtKB/Swiss-Prot
  ENST00000400952 ENTREZGENE
  ENST00000400952.7 UniProtKB/Swiss-Prot
  ENST00000428003.2 UniProtKB/TrEMBL
  ENST00000430092 ENTREZGENE
  ENST00000430092.5 UniProtKB/Swiss-Prot
  ENST00000433124.1 UniProtKB/TrEMBL
  ENST00000439375.6 UniProtKB/Swiss-Prot
  ENST00000445597.6 UniProtKB/Swiss-Prot
  ENST00000450490.1 UniProtKB/TrEMBL
  ENST00000474801.2 UniProtKB/TrEMBL
  ENST00000495456.1 UniProtKB/TrEMBL
  ENST00000638635.1 UniProtKB/TrEMBL
  ENST00000682510 ENTREZGENE
  ENST00000682510.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.2620 UniProtKB/TrEMBL
  1.10.472.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.8.1220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.8.710 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.8.720 UniProtKB/TrEMBL
  1.20.1270.280 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.140.100 UniProtKB/TrEMBL
  1.20.58.1120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.920.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.920.30 UniProtKB/TrEMBL
  3.10.490.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.20.180.20 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.1060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185842 GTEx
HGNC ID HGNC:2945 ENTREZGENE
Human Proteome Map DNAH14 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/TrEMBL
  AAA_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_11 UniProtKB/TrEMBL
  AAA_lid_11_sf UniProtKB/TrEMBL
  DHC_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNAH3_AAA_lid_1 UniProtKB/TrEMBL
  Dynein_2_C UniProtKB/TrEMBL
  Dynein_2_N UniProtKB/TrEMBL
  Dynein_AAA1S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_AAA5_ext UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_C_barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_HC_stalk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_heavy_chain_D4_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_heavy_D6_P-loop UniProtKB/TrEMBL
  Dynein_heavy_dom-2 UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:127602 UniProtKB/Swiss-Prot
NCBI Gene DNAH14 ENTREZGENE
OMIM 603341 OMIM
PANTHER DYNEIN AXONEMAL HEAVY CHAIN 14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DYNEIN AXONEMAL HEAVY CHAIN 14 UniProtKB/TrEMBL
  DYNEIN HEAVY CHAIN UniProtKB/TrEMBL
  DYNEIN HEAVY CHAIN FAMILY PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DYNEIN HEAVY CHAIN, CYTOPLASMIC UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/TrEMBL
Pfam AAA_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_1 UniProtKB/TrEMBL
  AAA_lid_11 UniProtKB/TrEMBL
  DHC_N2 UniProtKB/TrEMBL
  Dynein_AAA_lid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_heavy UniProtKB/TrEMBL
  PF12777 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27399 PharmGKB
SMART AAA UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PR53_HUMAN UniProtKB/TrEMBL
  A0A804HLD3 ENTREZGENE, UniProtKB/TrEMBL
  DYH14_HUMAN UniProtKB/Swiss-Prot
  H0YBB1_HUMAN UniProtKB/TrEMBL
  H0YBI3_HUMAN UniProtKB/TrEMBL
  H7BXS7_HUMAN UniProtKB/TrEMBL
  H7C164_HUMAN UniProtKB/TrEMBL
  H7C374_HUMAN UniProtKB/TrEMBL
  H7C3Z3_HUMAN UniProtKB/TrEMBL
  H9KV43_HUMAN UniProtKB/TrEMBL
  M9MMK7 ENTREZGENE, UniProtKB/TrEMBL
  Q0VDD8 ENTREZGENE
UniProt Secondary A6NG62 UniProtKB/Swiss-Prot
  A6NNL2 UniProtKB/Swiss-Prot
  Q0VDD9 UniProtKB/Swiss-Prot
  Q4VXC7 UniProtKB/Swiss-Prot
  Q4VXG4 UniProtKB/Swiss-Prot
  Q4VXG5 UniProtKB/Swiss-Prot
  Q5VU33 UniProtKB/Swiss-Prot
  Q5VU34 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 DNAH14  dynein axonemal heavy chain 14  C1orf67  chromosome 1 open reading frame 67  Data merged from RGD:1603881 737654 PROVISIONAL
2016-03-07 DNAH14  dynein axonemal heavy chain 14  DNAH14  dynein, axonemal, heavy chain 14  Symbol and/or name change 5135510 APPROVED