FOXH1 (forkhead box H1) - Rat Genome Database

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Gene: FOXH1 (forkhead box H1) Homo sapiens
Analyze
Symbol: FOXH1
Name: forkhead box H1
RGD ID: 1322645
HGNC Page HGNC
Description: Enables several functions, including DNA-binding transcription factor binding activity; SMAD binding activity; and sequence-specific DNA binding activity. Contributes to DNA binding activity and DNA-binding transcription factor activity. Involved in cellular response to cytokine stimulus; negative regulation of intracellular steroid hormone receptor signaling pathway; and regulation of transcription, DNA-templated. Located in chromatin and nucleus. Part of activin responsive factor complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FAST-1; fast-2; FAST1; forkhead activin signal transducer 1; forkhead activin signal transducer 2; forkhead activin signal transducer-1; forkhead box protein H1; hFAST-1; TGF-beta/activin signal transducer
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100418938   LOC100418957  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,473,412 - 144,475,849 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,473,412 - 144,475,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,698,795 - 145,701,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,670,306 - 145,672,526 (-)NCBINCBI36hg18NCBI36
Build 348145,670,316 - 145,672,526NCBI
Celera8141,874,214 - 141,876,817 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,812,639 - 140,814,791 (-)NCBIHuRef
CHM1_18145,737,374 - 145,739,977 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brainstem morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal morphology of the olfactory bulb  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the septum pellucidum  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aspiration pneumonia  (IAGP)
Asthma  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Bifid uvula  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Central hypothyroidism  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Coarctation of aorta  (IAGP)
Conotruncal defect  (IAGP)
Constipation  (IAGP)
Cyclopia  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Depressed nasal ridge  (IAGP)
Depression  (IAGP)
Diabetes insipidus  (IAGP)
Duodenal atresia  (IAGP)
Dysphagia  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Ethmoidal encephalocele  (IAGP)
Expressive language delay  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Hemangioma  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Macrocephaly  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Megalencephaly  (IAGP)
Microcephaly  (IAGP)
Midnasal stenosis  (IAGP)
Morphological abnormality of the gastrointestinal tract  (IAGP)
Narrow nasal bridge  (IAGP)
Neural tube defect  (IAGP)
Oromotor apraxia  (IAGP)
Panhypopituitarism  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Proboscis  (IAGP)
Renal agenesis  (IAGP)
Rhombencephalosynapsis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single naris  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Temperature instability  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:9288972   PMID:9389648   PMID:9702198   PMID:9858566   PMID:10199400   PMID:10938097   PMID:11076863   PMID:11371641   PMID:12471260   PMID:12477932   PMID:12732634   PMID:14671321  
PMID:15084259   PMID:15363409   PMID:15737749   PMID:15750622   PMID:15982639   PMID:16120611   PMID:16636667   PMID:16916642   PMID:17438144   PMID:17474147   PMID:17507406   PMID:18538293  
PMID:18922797   PMID:19274049   PMID:19420158   PMID:19525021   PMID:19711044   PMID:20211142   PMID:20301702   PMID:20634891   PMID:21828274   PMID:21873635   PMID:25201988   PMID:25482028  
PMID:25609649   PMID:25969425   PMID:30594391   PMID:31861475   PMID:32003456   PMID:32296183  


Genomics

Comparative Map Data
FOXH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,473,412 - 144,475,849 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,473,412 - 144,475,849 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,698,795 - 145,701,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,670,306 - 145,672,526 (-)NCBINCBI36hg18NCBI36
Build 348145,670,316 - 145,672,526NCBI
Celera8141,874,214 - 141,876,817 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,812,639 - 140,814,791 (-)NCBIHuRef
CHM1_18145,737,374 - 145,739,977 (-)NCBICHM1_1
Foxh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,552,029 - 76,554,286 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,552,425 - 76,554,148 (-)Ensembl
GRCm381576,667,829 - 76,671,614 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,668,225 - 76,669,948 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,498,737 - 76,500,303 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,495,562 - 76,497,128 (-)NCBImm8
Celera1578,161,919 - 78,163,485 (-)NCBICelera
Cytogenetic Map15D3NCBI
Foxh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,387,969 - 108,391,566 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7108,387,969 - 108,390,049 (-)Ensembl
Rnor_6.07117,730,307 - 117,733,076 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,730,307 - 117,732,387 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,718,390 - 117,720,470 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,717,890 - 114,719,455 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,752,036 - 114,753,685 (-)NCBI
Celera7104,737,872 - 104,739,952 (-)NCBICelera
Cytogenetic Map7q34NCBI
Foxh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,094,033 - 3,095,512 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,094,015 - 3,096,060 (-)NCBIChiLan1.0ChiLan1.0
FOXH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,229,228 - 144,231,829 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,225,933 - 144,232,736 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,240,691 - 141,244,381 (-)NCBIMhudiblu_PPA_v0panPan3
FOXH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,883,554 - 37,887,324 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,882,687 - 37,885,319 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,844,309 - 37,848,077 (-)NCBI
ROS_Cfam_1.01338,357,286 - 38,361,056 (-)NCBI
UMICH_Zoey_3.11338,049,036 - 38,052,801 (-)NCBI
UNSW_CanFamBas_1.01338,157,673 - 38,161,434 (-)NCBI
UU_Cfam_GSD_1.01338,634,120 - 38,637,890 (-)NCBI
Foxh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303361,968 - 365,427 (+)NCBI
SpeTri2.0NW_0049364707,789,486 - 7,791,067 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4320,537 - 324,481 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14320,610 - 324,570 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24411,723 - 415,556 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FOXH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,685,137 - 138,688,451 (-)NCBI
ChlSab1.1 Ensembl8138,685,626 - 138,687,144 (-)Ensembl
Vero_WHO_p1.0NW_0236660391,166,573 - 1,171,132 (+)NCBI
Foxh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,384,728 - 12,388,234 (+)NCBI

Position Markers
FOXH1_434.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,699,479 - 145,700,220UniSTSGRCh37
Build 368145,670,287 - 145,671,028RGDNCBI36
Celera8141,874,578 - 141,875,319RGD

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1065
Count of miRNA genes:659
Interacting mature miRNAs:779
Transcripts:ENST00000377317, ENST00000525197
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 2 8 2 181 16 2
Low 612 7 324 61 221 32 200 37 602 46 655 192 32 25 72 1
Below cutoff 1459 1925 1254 471 1036 342 3292 1379 2879 272 688 1304 138 1078 2099 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000377317   ⟹   ENSP00000366534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,473,412 - 144,475,849 (-)Ensembl
RefSeq Acc Id: ENST00000525197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,474,873 - 144,475,823 (-)Ensembl
RefSeq Acc Id: NM_003923   ⟹   NP_003914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,473,412 - 144,475,849 (-)NCBI
GRCh378145,699,115 - 145,701,718 (-)ENTREZGENE
Build 368145,670,306 - 145,672,526 (-)NCBI Archive
HuRef8140,812,639 - 140,814,791 (-)ENTREZGENE
CHM1_18145,737,374 - 145,739,977 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003914 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC34303 (Get FASTA)   NCBI Sequence Viewer  
  AAH65377 (Get FASTA)   NCBI Sequence Viewer  
  EAW82083 (Get FASTA)   NCBI Sequence Viewer  
  EAW82084 (Get FASTA)   NCBI Sequence Viewer  
  O75593 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003914   ⟸   NM_003923
- UniProtKB: O75593 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000366534   ⟸   ENST00000377317
Protein Domains
Fork-head

Promoters
RGD ID:7214487
Promoter ID:EPDNEW_H12990
Type:initiation region
Name:FOXH1_1
Description:forkhead box H1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,475,848 - 144,475,908EPDNEW
RGD ID:6806766
Promoter ID:HG_KWN:62353
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:UC010MGA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,670,936 - 145,671,436 (-)MPROMDB
RGD ID:6806764
Promoter ID:HG_KWN:62354
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000292541,   NM_003923
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,672,066 - 145,673,017 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
NM_003923.2(FOXH1):c.966G>A (p.Gly322=) single nucleotide variant Malignant melanoma [RCV000068212] Chr8:144474370 [GRCh38]
Chr8:145699753 [GRCh37]
Chr8:145670561 [NCBI36]
Chr8:8q24.3
not provided
NM_003923.2(FOXH1):c.352G>A (p.Glu118Lys) single nucleotide variant Malignant melanoma [RCV000068213] Chr8:144474984 [GRCh38]
Chr8:145700367 [GRCh37]
Chr8:145671175 [NCBI36]
Chr8:8q24.3
not provided
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) single nucleotide variant Holoprosencephaly sequence [RCV000536028]|not provided [RCV001529415]|not specified [RCV000080357] Chr8:144474998 [GRCh38]
Chr8:145700381 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003923.3(FOXH1):c.363G>C (p.Arg121=) single nucleotide variant Holoprosencephaly sequence [RCV000550766]|not specified [RCV000177180] Chr8:144474973 [GRCh38]
Chr8:145700356 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003923.3(FOXH1):c.450C>T (p.His150=) single nucleotide variant Holoprosencephaly sequence [RCV000462407]|not specified [RCV000177183] Chr8:144474886 [GRCh38]
Chr8:145700269 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) single nucleotide variant Holoprosencephaly sequence [RCV000260548]|not specified [RCV000125150] Chr8:144474565 [GRCh38]
Chr8:145699948 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) single nucleotide variant Holoprosencephaly sequence [RCV000226517]|not specified [RCV000125151] Chr8:144474259 [GRCh38]
Chr8:145699642 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) single nucleotide variant Holoprosencephaly sequence [RCV000472842]|none provided [RCV001282838]|not specified [RCV000177182] Chr8:144474963 [GRCh38]
Chr8:145700346 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) single nucleotide variant Holoprosencephaly sequence [RCV000459468]|not specified [RCV000177185] Chr8:144474553 [GRCh38]
Chr8:145699936 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3 copy number gain See cases [RCV000140675] Chr8:144468986..144535245 [GRCh38]
Chr8:145694369..145760629 [GRCh37]
Chr8:145665177..145731437 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_003923.3(FOXH1):c.529G>A (p.Gly177Arg) single nucleotide variant not provided [RCV000177181] Chr8:144474807 [GRCh38]
Chr8:145700190 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.499T>C (p.Phe167Leu) single nucleotide variant not provided [RCV000177184] Chr8:144474837 [GRCh38]
Chr8:145700220 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.15C>T (p.Ser5=) single nucleotide variant Holoprosencephaly sequence [RCV001086407]|not provided [RCV000299726] Chr8:144475742 [GRCh38]
Chr8:145701125 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.771C>A (p.Gly257=) single nucleotide variant Holoprosencephaly sequence [RCV000205773]|none provided [RCV001287069]|not specified [RCV000250230] Chr8:144474565 [GRCh38]
Chr8:145699948 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003923.3(FOXH1):c.361C>A (p.Arg121=) single nucleotide variant Holoprosencephaly sequence [RCV000229307]|not specified [RCV000254450] Chr8:144474975 [GRCh38]
Chr8:145700358 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) single nucleotide variant Holoprosencephaly sequence [RCV000556932]|not provided [RCV001529942]|not specified [RCV000277130] Chr8:144474352 [GRCh38]
Chr8:145699735 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.*20A>G single nucleotide variant Holoprosencephaly sequence [RCV000402838]|not specified [RCV000252700] Chr8:144474218 [GRCh38]
Chr8:145699601 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.864T>C (p.Asn288=) single nucleotide variant not specified [RCV000245609] Chr8:144474472 [GRCh38]
Chr8:145699855 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) single nucleotide variant Holoprosencephaly sequence [RCV000467626]|not specified [RCV000245904] Chr8:144475710 [GRCh38]
Chr8:145701093 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003923.3(FOXH1):c.*237_*239del deletion Holoprosencephaly sequence [RCV000283821] Chr8:144473999..144474001 [GRCh38]
Chr8:145699382..145699384 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*172C>G single nucleotide variant Holoprosencephaly sequence [RCV000343524] Chr8:144474066 [GRCh38]
Chr8:145699449 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*23C>T single nucleotide variant Holoprosencephaly sequence [RCV000344638] Chr8:144474215 [GRCh38]
Chr8:145699598 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_003923.3(FOXH1):c.933G>C (p.Trp311Cys) single nucleotide variant Holoprosencephaly sequence [RCV000394977] Chr8:144474403 [GRCh38]
Chr8:145699786 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*55C>T single nucleotide variant Holoprosencephaly sequence [RCV000289698] Chr8:144474183 [GRCh38]
Chr8:145699566 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.*311C>T single nucleotide variant Holoprosencephaly sequence [RCV000378246] Chr8:144473927 [GRCh38]
Chr8:145699310 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.577C>A (p.Pro193Thr) single nucleotide variant Holoprosencephaly sequence [RCV000356613] Chr8:144474759 [GRCh38]
Chr8:145700142 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*74G>A single nucleotide variant Holoprosencephaly sequence [RCV000403162] Chr8:144474164 [GRCh38]
Chr8:145699547 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.2(FOXH1):c.-136delC deletion Holoprosencephaly sequence [RCV000293797] Chr8:144475892 [GRCh38]
Chr8:145701275 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.-54C>T single nucleotide variant Holoprosencephaly sequence [RCV000383467] Chr8:144475810 [GRCh38]
Chr8:145701193 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.2(FOXH1):c.-333T>C single nucleotide variant Holoprosencephaly sequence [RCV000334780] Chr8:144476089 [GRCh38]
Chr8:145701472 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.2(FOXH1):c.-314T>G single nucleotide variant Holoprosencephaly sequence [RCV000298563] Chr8:144476070 [GRCh38]
Chr8:145701453 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.*472G>T single nucleotide variant Holoprosencephaly sequence [RCV000282528] Chr8:144473766 [GRCh38]
Chr8:145699149 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.442G>A (p.Val148Met) single nucleotide variant Holoprosencephaly sequence [RCV000261811] Chr8:144474894 [GRCh38]
Chr8:145700277 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.621A>C (p.Pro207=) single nucleotide variant not provided [RCV000302669] Chr8:144474715 [GRCh38]
Chr8:145700098 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.785G>T (p.Gly262Val) single nucleotide variant Holoprosencephaly sequence [RCV000315365] Chr8:144474551 [GRCh38]
Chr8:145699934 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.2(FOXH1):c.-446T>C single nucleotide variant Holoprosencephaly sequence [RCV000402855] Chr8:144476202 [GRCh38]
Chr8:145701585 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.2(FOXH1):c.-206C>T single nucleotide variant Holoprosencephaly sequence [RCV000348744] Chr8:144475962 [GRCh38]
Chr8:145701345 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*451C>T single nucleotide variant Holoprosencephaly sequence [RCV000319003] Chr8:144473787 [GRCh38]
Chr8:145699170 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.2(FOXH1):c.-280G>A single nucleotide variant Holoprosencephaly sequence [RCV000405987] Chr8:144476036 [GRCh38]
Chr8:145701419 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.389G>A (p.Arg130His) single nucleotide variant Holoprosencephaly sequence [RCV000321617] Chr8:144474947 [GRCh38]
Chr8:145700330 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.260C>G (p.Ser87Cys) single nucleotide variant Holoprosencephaly sequence [RCV000287832] Chr8:144475176 [GRCh38]
Chr8:145700559 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.2(FOXH1):c.-506G>A single nucleotide variant Holoprosencephaly sequence [RCV000299690] Chr8:144476262 [GRCh38]
Chr8:145701645 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly) single nucleotide variant Holoprosencephaly sequence [RCV000557713]|none provided [RCV001286190] Chr8:144474287 [GRCh38]
Chr8:145699670 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003923.3(FOXH1):c.14G>A (p.Ser5Asn) single nucleotide variant not provided [RCV000434645] Chr8:144475743 [GRCh38]
Chr8:145701126 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.44A>C (p.Glu15Ala) single nucleotide variant not provided [RCV000435609] Chr8:144475713 [GRCh38]
Chr8:145701096 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.1033G>A (p.Val345Ile) single nucleotide variant not provided [RCV000426302] Chr8:144474303 [GRCh38]
Chr8:145699686 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_003923.3(FOXH1):c.653C>T (p.Pro218Leu) single nucleotide variant Holoprosencephaly sequence [RCV000458875] Chr8:144474683 [GRCh38]
Chr8:145700066 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.1024G>A (p.Asp342Asn) single nucleotide variant Holoprosencephaly sequence [RCV000467437] Chr8:144474312 [GRCh38]
Chr8:145699695 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.912G>A (p.Pro304=) single nucleotide variant Holoprosencephaly sequence [RCV000475412] Chr8:144474424 [GRCh38]
Chr8:145699807 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.794C>A (p.Ser265Tyr) single nucleotide variant Holoprosencephaly sequence [RCV000468336] Chr8:144474542 [GRCh38]
Chr8:145699925 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.1055C>T (p.Ala352Val) single nucleotide variant not provided [RCV000486002] Chr8:144474281 [GRCh38]
Chr8:145699664 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.266G>A (p.Arg89Gln) single nucleotide variant Holoprosencephaly sequence [RCV001449128]|not provided [RCV000472733] Chr8:144475170 [GRCh38]
Chr8:145700553 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_003923.3(FOXH1):c.58C>T (p.Pro20Ser) single nucleotide variant Holoprosencephaly sequence [RCV000633319] Chr8:144475699 [GRCh38]
Chr8:145701082 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.282G>A (p.Val94=) single nucleotide variant Holoprosencephaly sequence [RCV000633320] Chr8:144475054 [GRCh38]
Chr8:145700437 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.69G>A (p.Arg23=) single nucleotide variant Holoprosencephaly sequence [RCV000633321] Chr8:144475688 [GRCh38]
Chr8:145701071 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln) single nucleotide variant Holoprosencephaly sequence [RCV000700052] Chr8:144474950 [GRCh38]
Chr8:145700333 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr) single nucleotide variant Holoprosencephaly sequence [RCV000693519] Chr8:144474362 [GRCh38]
Chr8:145699745 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) single nucleotide variant Holoprosencephaly sequence [RCV000692439] Chr8:144474590 [GRCh38]
Chr8:145699973 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.334G>A (p.Val112Met) single nucleotide variant Holoprosencephaly sequence [RCV000695876] Chr8:144475002 [GRCh38]
Chr8:145700385 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145655903-145742879)x1 copy number loss not provided [RCV000748028] Chr8:145655903..145742879 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758635)x3 copy number gain not provided [RCV000748034] Chr8:145667662..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758661)x3 copy number gain not provided [RCV000748035] Chr8:145667662..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145763152)x3 copy number gain not provided [RCV000748036] Chr8:145667662..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667664-145755918)x3 copy number gain not provided [RCV000748037] Chr8:145667664..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145692296-145753271)x1 copy number loss not provided [RCV000748038] Chr8:145692296..145753271 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.163A>C (p.Lys55Gln) single nucleotide variant Holoprosencephaly sequence [RCV000981633] Chr8:144475594 [GRCh38]
Chr8:145700977 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.780T>G (p.Val260=) single nucleotide variant not provided [RCV000867646] Chr8:144474556 [GRCh38]
Chr8:145699939 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.468G>A (p.Pro156=) single nucleotide variant Holoprosencephaly sequence [RCV001421179]|not provided [RCV000921361] Chr8:144474868 [GRCh38]
Chr8:145700251 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.617C>T (p.Thr206Ile) single nucleotide variant Holoprosencephaly sequence [RCV001515530]|not provided [RCV000866962] Chr8:144474719 [GRCh38]
Chr8:145700102 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.912G>T (p.Pro304=) single nucleotide variant Holoprosencephaly sequence [RCV000865887] Chr8:144474424 [GRCh38]
Chr8:145699807 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.700C>T (p.Gln234Ter) single nucleotide variant Holoprosencephaly sequence [RCV000779554] Chr8:144474636 [GRCh38]
Chr8:145700019 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.487C>T (p.Pro163Ser) single nucleotide variant Holoprosencephaly sequence [RCV001158371]|not provided [RCV000869309] Chr8:144474849 [GRCh38]
Chr8:145700232 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.1023C>T (p.Tyr341=) single nucleotide variant Holoprosencephaly sequence [RCV000862223] Chr8:144474313 [GRCh38]
Chr8:145699696 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.426G>A (p.Lys142=) single nucleotide variant not provided [RCV000863469] Chr8:144474910 [GRCh38]
Chr8:145700293 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
NC_000008.11:g.144476063C>T single nucleotide variant Holoprosencephaly sequence [RCV001165194] Chr8:144476063 [GRCh38]
Chr8:145701446 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu) single nucleotide variant Holoprosencephaly sequence [RCV000822467] Chr8:144474332 [GRCh38]
Chr8:145699715 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.(?_144474218)_(144475776_?)dup duplication Holoprosencephaly sequence [RCV001032607] Chr8:145699601..145701159 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3 copy number gain not provided [RCV000847278] Chr8:145695493..145798535 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*21C>A single nucleotide variant Holoprosencephaly sequence [RCV001162996] Chr8:144474217 [GRCh38]
Chr8:145699600 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.209T>C (p.Phe70Ser) single nucleotide variant Conotruncal defect [RCV001175385] Chr8:144475227 [GRCh38]
Chr8:145700610 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.44A>T (p.Glu15Val) single nucleotide variant Holoprosencephaly sequence [RCV001163114] Chr8:144475713 [GRCh38]
Chr8:145701096 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003923.3(FOXH1):c.13A>T (p.Ser5Cys) single nucleotide variant Holoprosencephaly sequence [RCV001237528] Chr8:144475744 [GRCh38]
Chr8:145701127 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001369769.2(KIFC2):c.2280_2282delinsTTC (p.Cys761Ser) indel Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia [RCV000853586] Chr8:144473293..144473295 [GRCh38]
Chr8:145698676..145698678 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_003923.3(FOXH1):c.493G>C (p.Glu165Gln) single nucleotide variant Conotruncal defect [RCV001175382] Chr8:144474843 [GRCh38]
Chr8:145700226 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_003923.3(FOXH1):c.277A>G (p.Lys93Glu) single nucleotide variant Conotruncal defect [RCV001175383] Chr8:144475159 [GRCh38]
Chr8:145700542 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_003923.3(FOXH1):c.206T>C (p.Phe69Ser) single nucleotide variant Conotruncal defect [RCV001175386] Chr8:144475230 [GRCh38]
Chr8:145700613 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.11:g.144476031C>A single nucleotide variant Holoprosencephaly sequence [RCV001165192] Chr8:144476031 [GRCh38]
Chr8:145701414 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*423G>A single nucleotide variant Holoprosencephaly sequence [RCV001161469] Chr8:144473815 [GRCh38]
Chr8:145699198 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.54C>G (p.Ser18=) single nucleotide variant Holoprosencephaly sequence [RCV000862703] Chr8:144475703 [GRCh38]
Chr8:145701086 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.936G>A (p.Gly312=) single nucleotide variant not provided [RCV000875819] Chr8:144474400 [GRCh38]
Chr8:145699783 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.129C>T (p.Ala43=) single nucleotide variant not provided [RCV000929058] Chr8:144475628 [GRCh38]
Chr8:145701011 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.557C>T (p.Ala186Val) single nucleotide variant Holoprosencephaly sequence [RCV001050255] Chr8:144474779 [GRCh38]
Chr8:145700162 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.965G>T (p.Gly322Val) single nucleotide variant Holoprosencephaly sequence [RCV001165081] Chr8:144474371 [GRCh38]
Chr8:145699754 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*436G>A single nucleotide variant Holoprosencephaly sequence [RCV001160060] Chr8:144473802 [GRCh38]
Chr8:145699185 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.-53G>A single nucleotide variant Holoprosencephaly sequence [RCV001163116] Chr8:144475809 [GRCh38]
Chr8:145701192 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.144476283G>A single nucleotide variant Holoprosencephaly sequence [RCV001158481] Chr8:144476283 [GRCh38]
Chr8:145701666 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.104C>G (p.Pro35Arg) single nucleotide variant Conotruncal defect [RCV001175388] Chr8:144475653 [GRCh38]
Chr8:145701036 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser) single nucleotide variant Holoprosencephaly sequence [RCV001158373] Chr8:144474930 [GRCh38]
Chr8:145700313 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.(?_144475137)_(144475776_?)dup duplication Holoprosencephaly sequence [RCV001032386] Chr8:145700520..145701159 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*382C>T single nucleotide variant Holoprosencephaly sequence [RCV001161470] Chr8:144473856 [GRCh38]
Chr8:145699239 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*322C>A single nucleotide variant Holoprosencephaly sequence [RCV001161472] Chr8:144473916 [GRCh38]
Chr8:145699299 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.232A>G (p.Lys78Glu) single nucleotide variant Conotruncal defect [RCV001175384] Chr8:144475204 [GRCh38]
Chr8:145700587 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_003923.3(FOXH1):c.*430G>A single nucleotide variant Holoprosencephaly sequence [RCV001160061] Chr8:144473808 [GRCh38]
Chr8:145699191 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.205T>C (p.Phe69Leu) single nucleotide variant Conotruncal defect [RCV001175387] Chr8:144475231 [GRCh38]
Chr8:145700614 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu) single nucleotide variant Holoprosencephaly sequence [RCV001068470] Chr8:144474764 [GRCh38]
Chr8:145700147 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.182G>A (p.Arg61His) single nucleotide variant Holoprosencephaly sequence [RCV001163112] Chr8:144475254 [GRCh38]
Chr8:145700637 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.776C>T (p.Ala259Val) single nucleotide variant Holoprosencephaly sequence [RCV001165083] Chr8:144474560 [GRCh38]
Chr8:145699943 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.144476063C>G single nucleotide variant Holoprosencephaly sequence [RCV001165193] Chr8:144476063 [GRCh38]
Chr8:145701446 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.144476093C>T single nucleotide variant Holoprosencephaly sequence [RCV001165195] Chr8:144476093 [GRCh38]
Chr8:145701476 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.81G>A (p.Arg27=) single nucleotide variant Holoprosencephaly sequence [RCV001163113] Chr8:144475676 [GRCh38]
Chr8:145701059 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.-27C>A single nucleotide variant Holoprosencephaly sequence [RCV001163115] Chr8:144475783 [GRCh38]
Chr8:145701166 [GRCh37]
Chr8:8q24.3
benign
NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala) single nucleotide variant Holoprosencephaly sequence [RCV001158372] Chr8:144474858 [GRCh38]
Chr8:145700241 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.144476299G>A single nucleotide variant Holoprosencephaly sequence [RCV001158482] Chr8:144476299 [GRCh38]
Chr8:145701682 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr) single nucleotide variant Holoprosencephaly sequence [RCV001229101] Chr8:144474863 [GRCh38]
Chr8:145700246 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.91C>T (p.His31Tyr) single nucleotide variant not provided [RCV001092985] Chr8:144475666 [GRCh38]
Chr8:145701049 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.812C>T (p.Ala271Val) single nucleotide variant Holoprosencephaly sequence [RCV001165082] Chr8:144474524 [GRCh38]
Chr8:145699907 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*354C>T single nucleotide variant Holoprosencephaly sequence [RCV001161471] Chr8:144473884 [GRCh38]
Chr8:145699267 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*233G>A single nucleotide variant Holoprosencephaly sequence [RCV001161473] Chr8:144474005 [GRCh38]
Chr8:145699388 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.*88A>G single nucleotide variant Holoprosencephaly sequence [RCV001161474] Chr8:144474150 [GRCh38]
Chr8:145699533 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly) single nucleotide variant Holoprosencephaly sequence [RCV001161583] Chr8:144475212 [GRCh38]
Chr8:145700595 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.1056G>A (p.Ala352=) single nucleotide variant Holoprosencephaly sequence [RCV001038767] Chr8:144474280 [GRCh38]
Chr8:145699663 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.507C>G (p.Ile169Met) single nucleotide variant Holoprosencephaly sequence [RCV001319060] Chr8:144474829 [GRCh38]
Chr8:145700212 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.424A>G (p.Lys142Glu) single nucleotide variant Holoprosencephaly sequence [RCV001321793] Chr8:144474912 [GRCh38]
Chr8:145700295 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.685G>A (p.Glu229Lys) single nucleotide variant Holoprosencephaly sequence [RCV001304392] Chr8:144474651 [GRCh38]
Chr8:145700034 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.878T>G (p.Leu293Trp) single nucleotide variant Holoprosencephaly sequence [RCV001368263] Chr8:144474458 [GRCh38]
Chr8:145699841 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe) single nucleotide variant Holoprosencephaly sequence [RCV001316318] Chr8:144474609 [GRCh38]
Chr8:145699992 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145700520)_(145701159_?)dup duplication Holoprosencephaly sequence [RCV001295705] Chr8:145700520..145701159 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.32C>A (p.Pro11His) single nucleotide variant Holoprosencephaly sequence [RCV001368767] Chr8:144475725 [GRCh38]
Chr8:145701108 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.130T>G (p.Leu44Val) single nucleotide variant Holoprosencephaly sequence [RCV001490438] Chr8:144475627 [GRCh38]
Chr8:145701010 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.6G>A (p.Gly2=) single nucleotide variant Holoprosencephaly sequence [RCV001424623] Chr8:144475751 [GRCh38]
Chr8:145701134 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.726C>T (p.Thr242=) single nucleotide variant Holoprosencephaly sequence [RCV001489564] Chr8:144474610 [GRCh38]
Chr8:145699993 [GRCh37]
Chr8:8q24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3814 AgrOrtholog
COSMIC FOXH1 COSMIC
Ensembl Genes ENSG00000160973 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000366534 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377317 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160973 GTEx
HGNC ID HGNC:3814 ENTREZGENE
Human Proteome Map FOXH1 Human Proteome Map
InterPro Fork_head_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8928 UniProtKB/Swiss-Prot
NCBI Gene 8928 ENTREZGENE
OMIM 603621 OMIM
Pfam Forkhead UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28231 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FORK_HEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt FOXH1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P0Y2_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DWM4 UniProtKB/Swiss-Prot