SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase) - Rat Genome Database

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Gene: SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase) Homo sapiens
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Symbol: SEPSECS
Name: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
RGD ID: 1606287
HGNC Page HGNC:30605
Description: Predicted to enable tRNA binding activity. Predicted to be involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Implicated in pontocerebellar hypoplasia type 2D.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434B1417; liver-pancreas antigen; LP; MGC161491; O-phosphoseryl-tRNA(Sec) selenium transferase; PCH2D; sec synthase; SecS; selenocysteine synthase; selenocysteinyl-tRNA(Sec) synthase; sep-tRNA:Sec-tRNA synthase; SLA; SLA-p35; SLA/LP; SLA/LP autoantigen; soluble liver antigen; soluble liver antigen/liver pancreas antigen; tRNA(Ser/Sec)-associated antigenic protein; UGA suppressor tRNA-associated protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38425,120,014 - 25,160,582 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl425,120,014 - 25,160,550 (-)EnsemblGRCh38hg38GRCh38
GRCh37425,121,636 - 25,162,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36424,732,820 - 24,771,083 (-)NCBINCBI36Build 36hg18NCBI36
Celera425,570,424 - 25,611,003 (-)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,462,251 - 24,502,807 (-)NCBIHuRef
CHM1_1425,120,960 - 25,161,508 (-)NCBICHM1_1
T2T-CHM13v2.0425,101,930 - 25,142,372 (-)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component
cytoplasm  (IEA,ISS)
cytosol  (TAS)
nucleus  (IEA,ISS)

Molecular Function

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

Human Phenotype
Abnormal cortical gyration  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Apnea  (IAGP)
Appendicular spasticity  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar cyst  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral hypoplasia  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Clonus  (IAGP)
Delayed myelination  (IAGP)
Dysplastic corpus callosum  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the ventral pons  (IAGP)
Impaired oropharyngeal swallow response  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability, profound  (IAGP)
Irritability  (IAGP)
Kyphosis  (IAGP)
Limb joint contracture  (IAGP)
Lower limb hypertonia  (IAGP)
Motor delay  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Paroxysmal dystonia  (IAGP)
Paroxysmal tonic upgaze  (IAGP)
Poor suck  (IAGP)
Progressive microcephaly  (IAGP)
Recurrent infections  (IAGP)
Reduced visual acuity  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Simple febrile seizure  (IAGP)
Sleep disturbance  (IAGP)
Sloping forehead  (IAGP)
Spastic ataxia  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Spinal rigidity  (IAGP)
Upper limb hypertonia  (IAGP)
Ventriculomegaly  (IAGP)
Viral infection-induced rhabdomyolysis  (IAGP)
Widened cerebellar subarachnoid space  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10801173   PMID:10931155   PMID:11230739   PMID:11826415   PMID:12477932   PMID:15146197   PMID:16230358   PMID:16344560   PMID:17142313   PMID:17194211   PMID:19608919   PMID:19683415  
PMID:20471133   PMID:20623998   PMID:20920667   PMID:21873635   PMID:22190034   PMID:23112913   PMID:23667531   PMID:23966103   PMID:25190812   PMID:25437307   PMID:25609649   PMID:26115735  
PMID:26186194   PMID:26673895   PMID:26888482   PMID:27173435   PMID:27432908   PMID:27576344   PMID:28133863   PMID:28514442   PMID:28675297   PMID:29845934   PMID:30561431   PMID:32296183  
PMID:32353859   PMID:32707033   PMID:33060197   PMID:33961781   PMID:34884733   PMID:35091508   PMID:35831314  


Genomics

Comparative Map Data
SEPSECS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38425,120,014 - 25,160,582 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl425,120,014 - 25,160,550 (-)EnsemblGRCh38hg38GRCh38
GRCh37425,121,636 - 25,162,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36424,732,820 - 24,771,083 (-)NCBINCBI36Build 36hg18NCBI36
Celera425,570,424 - 25,611,003 (-)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,462,251 - 24,502,807 (-)NCBIHuRef
CHM1_1425,120,960 - 25,161,508 (-)NCBICHM1_1
T2T-CHM13v2.0425,101,930 - 25,142,372 (-)NCBIT2T-CHM13v2.0
Sepsecs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39552,797,431 - 52,827,104 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl552,797,429 - 52,827,050 (-)EnsemblGRCm39 Ensembl
GRCm38552,640,089 - 52,669,764 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl552,640,087 - 52,669,708 (-)EnsemblGRCm38mm10GRCm38
MGSCv37553,034,646 - 53,060,940 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36552,931,655 - 52,957,949 (-)NCBIMGSCv36mm8
Celera550,018,495 - 50,044,811 (-)NCBICelera
Cytogenetic Map5C1NCBI
cM Map528.44NCBI
Sepsecs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21458,311,484 - 58,341,745 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1458,311,499 - 58,341,740 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1462,717,316 - 62,747,525 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01464,030,850 - 64,061,038 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01460,427,595 - 60,457,783 (+)NCBIRnor_WKY
Rnor_6.01460,657,730 - 60,687,950 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1460,657,686 - 60,687,958 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01460,774,968 - 60,804,615 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1457,410,554 - 57,440,746 (+)NCBICelera
Cytogenetic Map14q11NCBI
Sepsecs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544319,822,811 - 19,863,495 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544319,759,772 - 19,859,188 (+)NCBIChiLan1.0ChiLan1.0
SEPSECS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1424,802,260 - 24,842,816 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl424,802,260 - 24,842,816 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0419,517,552 - 19,558,454 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SEPSECS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1385,071,011 - 85,106,272 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl385,069,742 - 85,102,347 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha387,581,301 - 87,617,670 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0386,042,457 - 86,079,026 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl386,042,315 - 86,079,014 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1385,175,693 - 85,212,054 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0385,280,327 - 85,316,666 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0385,666,236 - 85,702,832 (+)NCBIUU_Cfam_GSD_1.0
Sepsecs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528550,634,482 - 50,667,254 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364774,336,059 - 4,368,901 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364774,335,945 - 4,368,117 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPSECS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl819,097,456 - 19,136,222 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1819,097,788 - 19,162,246 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2819,354,106 - 19,412,899 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SEPSECS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12725,202,150 - 25,242,782 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2725,202,506 - 25,243,330 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604771,720,135 - 71,758,892 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sepsecs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247557,211,584 - 7,250,748 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247557,211,598 - 7,250,748 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEPSECS
310 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000000436]|not provided [RCV001380416] Chr4:25144799 [GRCh38]
Chr4:25146421 [GRCh37]
Chr4:4p15.2
pathogenic|likely pathogenic
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000000437]|Pontoneocerebellar hypoplasia [RCV001582489]|not provided [RCV001380417] Chr4:25152049 [GRCh38]
Chr4:25153671 [GRCh37]
Chr4:4p15.2
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263] Chr4:21056309..26732162 [GRCh38]
Chr4:21057932..26733784 [GRCh37]
Chr4:20667030..26342882 [NCBI36]
Chr4:4p15.31-15.2
pathogenic
NM_016955.4(SEPSECS):c.535A>G (p.Met179Val) single nucleotide variant not provided [RCV000658062] Chr4:25156049 [GRCh38]
Chr4:25157671 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.489G>A (p.Lys163=) single nucleotide variant not provided [RCV000118323] Chr4:25156095 [GRCh38]
Chr4:25157717 [GRCh37]
Chr4:4p15.2
conflicting interpretations of pathogenicity|uncertain significance
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000392056]|not provided [RCV000889945]|not specified [RCV000118324] Chr4:25151984 [GRCh38]
Chr4:25153606 [GRCh37]
Chr4:4p15.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016955.4(SEPSECS):c.1211+7A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000400873]|not provided [RCV001511858]|not specified [RCV000118325] Chr4:25125687 [GRCh38]
Chr4:25127309 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000284502]|not provided [RCV001511157]|not specified [RCV000118326] Chr4:25124081 [GRCh38]
Chr4:25125703 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001145216]|not provided [RCV000966905]|not specified [RCV000118327] Chr4:25124043 [GRCh38]
Chr4:25125665 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.935-5T>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000364027]|not provided [RCV001514700]|not specified [RCV000118328] Chr4:25144870 [GRCh38]
Chr4:25146492 [GRCh37]
Chr4:4p15.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000170363]|not provided [RCV001565090] Chr4:25123971 [GRCh38]
Chr4:25125593 [GRCh37]
Chr4:4p15.2
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1 copy number loss See cases [RCV000135404] Chr4:23862000..27685546 [GRCh38]
Chr4:23863623..27687168 [GRCh37]
Chr4:23472721..27296266 [NCBI36]
Chr4:4p15.2
pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
NM_018176.3(LGI2):c.-473617_-693dup duplication Gestational diabetes mellitus uncontrolled [RCV000161338] Chr4:25031386..25504310 [GRCh38]
Chr4:25033008..25505932 [GRCh37]
Chr4:4p15.2
not provided
NM_016955.4(SEPSECS):c.1028_1120+1del deletion Cerebellar ataxia [RCV000162172] Chr4:25127263..25127356 [GRCh38]
Chr4:25128885..25128978 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.115-18dup duplication Pontocerebellar hypoplasia type 2D [RCV001833140]|not provided [RCV001636717]|not specified [RCV000193641] Chr4:25159110..25159111 [GRCh38]
Chr4:25160732..25160733 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.*2840T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000262653] Chr4:25121091 [GRCh38]
Chr4:25122713 [GRCh37]
Chr4:4p15.2
benign|uncertain significance
NM_016955.5(SEPSECS):c.808dup duplication Pontocerebellar hypoplasia type 2D [RCV000625974]|not provided [RCV000396553] Chr4:25145129..25145130 [GRCh38]
Chr4:25146751..25146752 [GRCh37]
Chr4:4p15.2
pathogenic|likely pathogenic
NM_016955.4(SEPSECS):c.1271C>A (p.Ser424Ter) single nucleotide variant not specified [RCV000194695] Chr4:25124166 [GRCh38]
Chr4:25125788 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_016955.4(SEPSECS):c.*253A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000279676] Chr4:25123678 [GRCh38]
Chr4:25125300 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_016955.4(SEPSECS):c.*2645A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000268636] Chr4:25121286 [GRCh38]
Chr4:25122908 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001834702]|not provided [RCV000520472] Chr4:25156093 [GRCh38]
Chr4:25157715 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_016955.4(SEPSECS):c.*610G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000266311] Chr4:25123321 [GRCh38]
Chr4:25124943 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1 copy number loss See cases [RCV000240221] Chr4:23458442..29252060 [GRCh37]
Chr4:4p15.2-15.1
pathogenic
NM_016955.4(SEPSECS):c.*454C>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000272625] Chr4:25123477 [GRCh38]
Chr4:25125099 [GRCh37]
Chr4:4p15.2
benign|uncertain significance
NM_016955.4(SEPSECS):c.*271G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000333685] Chr4:25123660 [GRCh38]
Chr4:25125282 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1041T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000300629] Chr4:25122890 [GRCh38]
Chr4:25124512 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*236_*237insTTT insertion Pontoneocerebellar hypoplasia [RCV000334763]|not provided [RCV001547375] Chr4:25123694..25123695 [GRCh38]
Chr4:25125316..25125317 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*2694A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000377149] Chr4:25121237 [GRCh38]
Chr4:25122859 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*638G>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000301729] Chr4:25123293 [GRCh38]
Chr4:25124915 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*1614T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000336244] Chr4:25122317 [GRCh38]
Chr4:25123939 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*807A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000355435] Chr4:25123124 [GRCh38]
Chr4:25124746 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.*2990G>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000357470] Chr4:25120941 [GRCh38]
Chr4:25122563 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1120+12T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000304645]|not provided [RCV001514003]|not specified [RCV000434822] Chr4:25127252 [GRCh38]
Chr4:25128874 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000339643]|not provided [RCV001591008] Chr4:25124161 [GRCh38]
Chr4:25125783 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*2209A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000288520] Chr4:25121722 [GRCh38]
Chr4:25123344 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*2123A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000383691] Chr4:25121808 [GRCh38]
Chr4:25123430 [GRCh37]
Chr4:4p15.2
benign|uncertain significance
NM_016955.4(SEPSECS):c.*681A>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000407194] Chr4:25123250 [GRCh38]
Chr4:25124872 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.*2300A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000323677] Chr4:25121631 [GRCh38]
Chr4:25123253 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*455C>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000362191] Chr4:25123476 [GRCh38]
Chr4:25125098 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*354C>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000292446] Chr4:25123577 [GRCh38]
Chr4:25125199 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*371_*372del deletion Pontoneocerebellar hypoplasia [RCV000386976] Chr4:25123559..25123560 [GRCh38]
Chr4:25125181..25125182 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*254_*257del deletion Pontoneocerebellar hypoplasia [RCV000388145]|not provided [RCV001591007] Chr4:25123674..25123677 [GRCh38]
Chr4:25125296..25125299 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.*3775A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000346071] Chr4:25120156 [GRCh38]
Chr4:25121778 [GRCh37]
Chr4:4p15.2
benign|uncertain significance
NM_016955.4(SEPSECS):c.*3848C>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000309990] Chr4:25120083 [GRCh38]
Chr4:25121705 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.269+9_269+12del deletion Pontoneocerebellar hypoplasia [RCV000310046]|not provided [RCV000923630] Chr4:25158941..25158944 [GRCh38]
Chr4:25160563..25160566 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.*3402A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000310990] Chr4:25120529 [GRCh38]
Chr4:25122151 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.*3234T>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000370355] Chr4:25120697 [GRCh38]
Chr4:25122319 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.3(SEPSECS):c.-160C>T single nucleotide variant Pontoneocerebellar hypoplasia [RCV000370419]|not provided [RCV001561175] Chr4:25160529 [GRCh38]
Chr4:25162151 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.3(SEPSECS):c.-147dup duplication Pontoneocerebellar hypoplasia [RCV000274750]|not provided [RCV001613151] Chr4:25160508..25160509 [GRCh38]
Chr4:25162130..25162131 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.3(SEPSECS):c.-147_-146dup duplication Pontoneocerebellar hypoplasia [RCV000329745]|not provided [RCV001584062] Chr4:25160508..25160509 [GRCh38]
Chr4:25162130..25162131 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.*3134C>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000275799] Chr4:25120797 [GRCh38]
Chr4:25122419 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*6G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277780] Chr4:25123925 [GRCh38]
Chr4:25125547 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277781] Chr4:25123976 [GRCh38]
Chr4:25125598 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277787] Chr4:25124215 [GRCh38]
Chr4:25125837 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1211+155G>T single nucleotide variant not provided [RCV001547992] Chr4:25125539 [GRCh38]
Chr4:25127161 [GRCh37]
Chr4:4p15.2
likely benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_016955.4(SEPSECS):c.388+141_388+148del deletion not provided [RCV001571505] Chr4:25156708..25156715 [GRCh38]
Chr4:25158330..25158337 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001278312] Chr4:25156085 [GRCh38]
Chr4:25157707 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*112T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000399970] Chr4:25123819 [GRCh38]
Chr4:25125441 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1622T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000400606] Chr4:25122309 [GRCh38]
Chr4:25123931 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*2250A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000382921] Chr4:25121681 [GRCh38]
Chr4:25123303 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*2179T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000347758] Chr4:25121752 [GRCh38]
Chr4:25123374 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.3(SEPSECS):c.-143_-139TTTTG[4] microsatellite Pontoneocerebellar hypoplasia [RCV000364681] Chr4:25160484..25160488 [GRCh38]
Chr4:25162106..25162110 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1727G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000294013] Chr4:25122204 [GRCh38]
Chr4:25123826 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1635G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000348908] Chr4:25122296 [GRCh38]
Chr4:25123918 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1574T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000407211] Chr4:25122357 [GRCh38]
Chr4:25123979 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*2708G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000322497] Chr4:25121223 [GRCh38]
Chr4:25122845 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*3082A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000298085] Chr4:25120849 [GRCh38]
Chr4:25122471 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*3402AAT[1] microsatellite Pontoneocerebellar hypoplasia [RCV000392470] Chr4:25120524..25120526 [GRCh38]
Chr4:25122146..25122148 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*470T>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000326174] Chr4:25123461 [GRCh38]
Chr4:25125083 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*420G>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000327759] Chr4:25123511 [GRCh38]
Chr4:25125133 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1620C>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000314009] Chr4:25122311 [GRCh38]
Chr4:25123933 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*612G>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000361034] Chr4:25123319 [GRCh38]
Chr4:25124941 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.294C>T (p.Ser98=) single nucleotide variant not provided [RCV000930356]|not specified [RCV000603532] Chr4:25156950 [GRCh38]
Chr4:25158572 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+5G>A single nucleotide variant Congenital cerebellar hypoplasia [RCV000415364]|Pontocerebellar hypoplasia type 2D [RCV001197502] Chr4:25156851 [GRCh38]
Chr4:25158473 [GRCh37]
Chr4:4p15.2
likely pathogenic
NC_000004.11:g.25146752C>CC single nucleotide variant not provided [RCV000734589] Chr4:25146752 [GRCh37]
Chr4:4p15.2
likely pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_016955.4(SEPSECS):c.1464A>G (p.Leu488=) single nucleotide variant not provided [RCV001483206]|not specified [RCV000434870] Chr4:25123973 [GRCh38]
Chr4:25125595 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+3A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001333939]|not provided [RCV000428576]|not specified [RCV002265757] Chr4:25156853 [GRCh38]
Chr4:25158475 [GRCh37]
Chr4:4p15.2
likely pathogenic|uncertain significance
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1 copy number loss See cases [RCV000445756] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1
likely pathogenic
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001834574]|not provided [RCV000485487] Chr4:25144778 [GRCh38]
Chr4:25146400 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001829417]|not provided [RCV000498150] Chr4:25155115 [GRCh38]
Chr4:25156737 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.548-1G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001834608]|not provided [RCV000498347] Chr4:25155152 [GRCh38]
Chr4:25156774 [GRCh37]
Chr4:4p15.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) single nucleotide variant Inborn genetic diseases [RCV000623270] Chr4:25156889 [GRCh38]
Chr4:25158511 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.612dup (p.Val205fs) duplication Inborn genetic diseases [RCV000624315] Chr4:25155086..25155087 [GRCh38]
Chr4:25156708..25156709 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000625975]|not provided [RCV001462752]|not specified [RCV001553762] Chr4:25145092 [GRCh38]
Chr4:25146714 [GRCh37]
Chr4:4p15.2
likely pathogenic|likely benign|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001829820]|not provided [RCV000658063] Chr4:25156195 [GRCh38]
Chr4:25157817 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001579254] Chr4:25145115 [GRCh38]
Chr4:25146737 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1120+104T>C single nucleotide variant not provided [RCV001582166] Chr4:25127160 [GRCh38]
Chr4:25128782 [GRCh37]
Chr4:4p15.2
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_016955.4(SEPSECS):c.114+84C>T single nucleotide variant not provided [RCV001534040] Chr4:25160172 [GRCh38]
Chr4:25161794 [GRCh37]
Chr4:4p15.2
likely benign
Single allele single nucleotide variant not provided [RCV001666623] Chr4:25160758 [GRCh38]
Chr4:25162380 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001275663]|not provided [RCV000760845] Chr4:25151998 [GRCh38]
Chr4:25153620 [GRCh37]
Chr4:4p15.2
pathogenic|likely pathogenic
NM_016955.4(SEPSECS):c.805-312A>T single nucleotide variant not provided [RCV001566319] Chr4:25145445 [GRCh38]
Chr4:25147067 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.389-10T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001148075]|not provided [RCV001477084] Chr4:25156205 [GRCh38]
Chr4:25157827 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.772C>T (p.Gln258Ter) single nucleotide variant not provided [RCV001057337] Chr4:25151992 [GRCh38]
Chr4:25153614 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001030789] Chr4:25159041 [GRCh38]
Chr4:25160663 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*352A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001149512] Chr4:25123579 [GRCh38]
Chr4:25125201 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*328A>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001149513] Chr4:25123603 [GRCh38]
Chr4:25125225 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1031G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147069] Chr4:25122900 [GRCh38]
Chr4:25124522 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.474A>G (p.Lys158=) single nucleotide variant not provided [RCV000921535] Chr4:25156110 [GRCh38]
Chr4:25157732 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1215T>C (p.Val405=) single nucleotide variant not provided [RCV000982624] Chr4:25124222 [GRCh38]
Chr4:25125844 [GRCh37]
Chr4:4p15.2
likely benign
NC_000004.12:g.(?_25156846)_(25156984_?)del deletion not provided [RCV001031090] Chr4:25158468..25158606 [GRCh37]
Chr4:4p15.2
pathogenic
NC_000004.12:g.(?_25151950)_(25152072_?)del deletion not provided [RCV001031973] Chr4:25153572..25153694 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.501G>A (p.Trp167Ter) single nucleotide variant not provided [RCV001070148] Chr4:25156083 [GRCh38]
Chr4:25157705 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000779439]|Spastic ataxia [RCV001644813]|not specified [RCV002298768] Chr4:25124044 [GRCh38]
Chr4:25125666 [GRCh37]
Chr4:4p15.2
pathogenic|uncertain significance
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1
pathogenic
NM_016955.4(SEPSECS):c.582A>G (p.Glu194=) single nucleotide variant not provided [RCV000942683] Chr4:25155117 [GRCh38]
Chr4:25156739 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1027-9T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001275736]|not provided [RCV000927879] Chr4:25127366 [GRCh38]
Chr4:25128988 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.1027-7G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147180]|not provided [RCV000861024] Chr4:25127364 [GRCh38]
Chr4:25128986 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.388+10G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001275738]|not provided [RCV000861615] Chr4:25156846 [GRCh38]
Chr4:25158468 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000984512] Chr4:25144800 [GRCh38]
Chr4:25146422 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147178]|not provided [RCV000860771] Chr4:25125777 [GRCh38]
Chr4:25127399 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV002507382]|not provided [RCV000799457] Chr4:25156955 [GRCh38]
Chr4:25158577 [GRCh37]
Chr4:4p15.2
pathogenic|likely pathogenic
NM_016955.4(SEPSECS):c.388+9C>T single nucleotide variant not provided [RCV000914047] Chr4:25156847 [GRCh38]
Chr4:25158469 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+256G>A single nucleotide variant not provided [RCV000828461] Chr4:25156600 [GRCh38]
Chr4:25158222 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.588C>T (p.Asp196=) single nucleotide variant not provided [RCV000976709] Chr4:25155111 [GRCh38]
Chr4:25156733 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV000791203] Chr4:25124163 [GRCh38]
Chr4:25125785 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.701+137T>C single nucleotide variant not provided [RCV000828940] Chr4:25154861 [GRCh38]
Chr4:25156483 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147177] Chr4:25125724 [GRCh38]
Chr4:25127346 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*2480T>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001149414] Chr4:25121451 [GRCh38]
Chr4:25123073 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.3(SEPSECS):c.-265T>G single nucleotide variant not provided [RCV000829698] Chr4:25160634 [GRCh38]
Chr4:25162256 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.*2966A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147869] Chr4:25120965 [GRCh38]
Chr4:25122587 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.*2916A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147871] Chr4:25121015 [GRCh38]
Chr4:25122637 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1121-1G>T single nucleotide variant not provided [RCV000792598] Chr4:25125785 [GRCh38]
Chr4:25127407 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.*3870A>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001146962] Chr4:25120061 [GRCh38]
Chr4:25121683 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1027-17A>G single nucleotide variant not provided [RCV000828025] Chr4:25127374 [GRCh38]
Chr4:25128996 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.270-154A>G single nucleotide variant not provided [RCV000830918] Chr4:25157128 [GRCh38]
Chr4:25158750 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.1026+224A>G single nucleotide variant not provided [RCV000830919] Chr4:25144550 [GRCh38]
Chr4:25146172 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001148076]|not provided [RCV000939971] Chr4:25160325 [GRCh38]
Chr4:25161947 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.1120+150G>A single nucleotide variant not provided [RCV001581679] Chr4:25127114 [GRCh38]
Chr4:25128736 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001275737]|not provided [RCV000861450] Chr4:25145019 [GRCh38]
Chr4:25146641 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.269+85T>G single nucleotide variant not provided [RCV000832323] Chr4:25158868 [GRCh38]
Chr4:25160490 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*2618C>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001149413] Chr4:25121313 [GRCh38]
Chr4:25122935 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*223G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001149515] Chr4:25123708 [GRCh38]
Chr4:25125330 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.*1122C>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147068] Chr4:25122809 [GRCh38]
Chr4:25124431 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.420T>A (p.Val140=) single nucleotide variant not provided [RCV000975670] Chr4:25156164 [GRCh38]
Chr4:25157786 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.449dup (p.Cys151fs) duplication not provided [RCV001056075] Chr4:25156134..25156135 [GRCh38]
Chr4:25157756..25157757 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001145217] Chr4:25124111 [GRCh38]
Chr4:25125733 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.107_108insAA (p.Glu37fs) insertion not provided [RCV001241376] Chr4:25160262..25160263 [GRCh38]
Chr4:25161884..25161885 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.41C>A (p.Ser14Ter) single nucleotide variant not provided [RCV001226200] Chr4:25160329 [GRCh38]
Chr4:25161951 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001175102] Chr4:25160275 [GRCh38]
Chr4:25161897 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*327G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001149514] Chr4:25123604 [GRCh38]
Chr4:25125226 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.652_653del (p.Leu218fs) deletion not provided [RCV001009054] Chr4:25155046..25155047 [GRCh38]
Chr4:25156668..25156669 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.804+126_804+127del microsatellite not provided [RCV001548266] Chr4:25151833..25151834 [GRCh38]
Chr4:25153455..25153456 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+121_388+122dup duplication not provided [RCV001560466] Chr4:25156707..25156708 [GRCh38]
Chr4:25158329..25158330 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+191C>T single nucleotide variant not provided [RCV001586882] Chr4:25156665 [GRCh38]
Chr4:25158287 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+146_388+148del deletion not provided [RCV001685988] Chr4:25156708..25156710 [GRCh38]
Chr4:25158330..25158332 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.1211+198C>T single nucleotide variant not provided [RCV001582236] Chr4:25125496 [GRCh38]
Chr4:25127118 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1026+89C>T single nucleotide variant not provided [RCV001609640] Chr4:25144685 [GRCh38]
Chr4:25146307 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001275662]|not provided [RCV000861527] Chr4:25144777 [GRCh38]
Chr4:25146399 [GRCh37]
Chr4:4p15.2
benign|likely benign
NM_016955.4(SEPSECS):c.1212-10C>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001275735]|not provided [RCV000977433] Chr4:25124235 [GRCh38]
Chr4:25125857 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001275734]|not provided [RCV000910152] Chr4:25124146 [GRCh38]
Chr4:25125768 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.1089G>A (p.Leu363=) single nucleotide variant not provided [RCV000975541] Chr4:25127295 [GRCh38]
Chr4:25128917 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.367C>T (p.Leu123=) single nucleotide variant not provided [RCV000975629] Chr4:25156877 [GRCh38]
Chr4:25158499 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1383A>G (p.Val461=) single nucleotide variant not provided [RCV000975692] Chr4:25124054 [GRCh38]
Chr4:25125676 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1212-7C>T single nucleotide variant not provided [RCV000931968] Chr4:25124232 [GRCh38]
Chr4:25125854 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1290T>C (p.Pro430=) single nucleotide variant not provided [RCV000928840] Chr4:25124147 [GRCh38]
Chr4:25125769 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.60G>A (p.Gln20=) single nucleotide variant not provided [RCV000977601] Chr4:25160310 [GRCh38]
Chr4:25161932 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.*1591G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147067] Chr4:25122340 [GRCh38]
Chr4:25123962 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1008T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147070] Chr4:25122923 [GRCh38]
Chr4:25124545 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1120+8C>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147179]|not provided [RCV002070785] Chr4:25127256 [GRCh38]
Chr4:25128878 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 copy number loss not provided [RCV001005527] Chr4:20406475..29134345 [GRCh37]
Chr4:4p15.31-15.1
pathogenic
NM_016955.4(SEPSECS):c.389-52A>G single nucleotide variant not provided [RCV001553183] Chr4:25156247 [GRCh38]
Chr4:25157869 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.548-213A>C single nucleotide variant not provided [RCV001556163] Chr4:25155364 [GRCh38]
Chr4:25156986 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.114+339C>T single nucleotide variant not provided [RCV001720829] Chr4:25159917 [GRCh38]
Chr4:25161539 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.115-4del deletion Pontocerebellar hypoplasia type 2D [RCV001827590]|not provided [RCV001719375] Chr4:25159111 [GRCh38]
Chr4:25160733 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.389-138T>G single nucleotide variant not provided [RCV001639151] Chr4:25156333 [GRCh38]
Chr4:25157955 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001596551] Chr4:25160369 [GRCh38]
Chr4:25161991 [GRCh37]
Chr4:4p15.2
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_016955.4(SEPSECS):c.*1659C>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001145115] Chr4:25122272 [GRCh38]
Chr4:25123894 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*1648G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001145116] Chr4:25122283 [GRCh38]
Chr4:25123905 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.388+121dup duplication not provided [RCV001666841] Chr4:25156707..25156708 [GRCh38]
Chr4:25158329..25158330 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.115-240_115-236del deletion not provided [RCV001533897] Chr4:25159343..25159347 [GRCh38]
Chr4:25160965..25160969 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.443dup (p.Thr149fs) duplication not provided [RCV001063704] Chr4:25156140..25156141 [GRCh38]
Chr4:25157762..25157763 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.*1637G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001145117] Chr4:25122294 [GRCh38]
Chr4:25123916 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001145215] Chr4:25123932 [GRCh38]
Chr4:25125554 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.389-45del deletion not provided [RCV001669799] Chr4:25156240 [GRCh38]
Chr4:25157862 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.114+163C>G single nucleotide variant not provided [RCV001540702] Chr4:25160093 [GRCh38]
Chr4:25161715 [GRCh37]
Chr4:4p15.2
benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001145218] Chr4:25124180 [GRCh38]
Chr4:25125802 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147181]|not provided [RCV001760105] Chr4:25155065 [GRCh38]
Chr4:25156687 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*2921A>G single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147870] Chr4:25121010 [GRCh38]
Chr4:25122632 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.*2871T>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001147872] Chr4:25121060 [GRCh38]
Chr4:25122682 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.389-8A>C single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001148074]|not provided [RCV001394107] Chr4:25156203 [GRCh38]
Chr4:25157825 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001278309] Chr4:25127264 [GRCh38]
Chr4:25128886 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001278313] Chr4:25158958 [GRCh38]
Chr4:25160580 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.114+3A>G single nucleotide variant Neurodevelopmental abnormality [RCV001264723]|not provided [RCV001281617] Chr4:25160253 [GRCh38]
Chr4:25161875 [GRCh37]
Chr4:4p15.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277786] Chr4:25124187 [GRCh38]
Chr4:25125809 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001263151] Chr4:25145126 [GRCh38]
Chr4:25146748 [GRCh37]
Chr4:4p15.2
likely pathogenic|uncertain significance
NM_016955.4(SEPSECS):c.448_449del (p.Leu150fs) microsatellite not provided [RCV001382709] Chr4:25156135..25156136 [GRCh38]
Chr4:25157757..25157758 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277782] Chr4:25123984 [GRCh38]
Chr4:25125606 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.804+4A>T single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001278311] Chr4:25151956 [GRCh38]
Chr4:25153578 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.389-6T>A single nucleotide variant not provided [RCV001415197] Chr4:25156201 [GRCh38]
Chr4:25157823 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.382C>T (p.Leu128=) single nucleotide variant not provided [RCV001415013] Chr4:25156862 [GRCh38]
Chr4:25158484 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.241T>C (p.Ser81Pro) single nucleotide variant not provided [RCV001373792] Chr4:25158981 [GRCh38]
Chr4:25160603 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277784] Chr4:25124086 [GRCh38]
Chr4:25125708 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001278310]|not provided [RCV001493960] Chr4:25144840 [GRCh38]
Chr4:25146462 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001328978] Chr4:25158966 [GRCh38]
Chr4:25160588 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277783] Chr4:25124047 [GRCh38]
Chr4:25125669 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001277785]|not provided [RCV001470323] Chr4:25124117 [GRCh38]
Chr4:25125739 [GRCh37]
Chr4:4p15.2
likely benign|uncertain significance
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) microsatellite Pontocerebellar hypoplasia type 2D [RCV002266042]|not provided [RCV001867264] Chr4:25144774..25144777 [GRCh38]
Chr4:25146396..25146399 [GRCh37]
Chr4:4p15.2
pathogenic|likely pathogenic
NM_016955.4(SEPSECS):c.115-1G>C single nucleotide variant not provided [RCV001377639] Chr4:25159108 [GRCh38]
Chr4:25160730 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.389-1G>A single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001831342]|not provided [RCV001377482] Chr4:25156196 [GRCh38]
Chr4:25157818 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.934+9_934+12del microsatellite not provided [RCV001504624] Chr4:25144992..25144995 [GRCh38]
Chr4:25146614..25146617 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.701+10T>A single nucleotide variant not provided [RCV001475259] Chr4:25154988 [GRCh38]
Chr4:25156610 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.702-3_705del deletion not provided [RCV001378095] Chr4:25152059..25152065 [GRCh38]
Chr4:25153681..25153687 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.247C>T (p.Leu83=) single nucleotide variant not provided [RCV001483125] Chr4:25158975 [GRCh38]
Chr4:25160597 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1344C>T (p.Asp448=) single nucleotide variant not provided [RCV001417648] Chr4:25124093 [GRCh38]
Chr4:25125715 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.903A>C (p.Ser301=) single nucleotide variant not provided [RCV001436447] Chr4:25145035 [GRCh38]
Chr4:25146657 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.75C>T (p.Arg25=) single nucleotide variant not provided [RCV001431246] Chr4:25160295 [GRCh38]
Chr4:25161917 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1179G>A (p.Ser393=) single nucleotide variant not provided [RCV001454986] Chr4:25125726 [GRCh38]
Chr4:25127348 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.243C>T (p.Ser81=) single nucleotide variant not provided [RCV001459853] Chr4:25158979 [GRCh38]
Chr4:25160601 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1476T>G (p.Leu492=) single nucleotide variant not provided [RCV001480752] Chr4:25123961 [GRCh38]
Chr4:25125583 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.450G>T (p.Leu150=) single nucleotide variant not provided [RCV001474439] Chr4:25156134 [GRCh38]
Chr4:25157756 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.547+10G>A single nucleotide variant not provided [RCV001492976] Chr4:25156027 [GRCh38]
Chr4:25157649 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.939A>G (p.Arg313=) single nucleotide variant not provided [RCV001487278] Chr4:25144861 [GRCh38]
Chr4:25146483 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.313C>T (p.Gln105Ter) single nucleotide variant not provided [RCV001384097] Chr4:25156931 [GRCh38]
Chr4:25158553 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.804+4AG[2] microsatellite not provided [RCV001489872] Chr4:25151951..25151952 [GRCh38]
Chr4:25153573..25153574 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.684T>G (p.Ala228=) single nucleotide variant not provided [RCV001501893] Chr4:25155015 [GRCh38]
Chr4:25156637 [GRCh37]
Chr4:4p15.2
likely benign
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_016955.4(SEPSECS):c.666T>C (p.Ser222=) single nucleotide variant not provided [RCV001471594] Chr4:25155033 [GRCh38]
Chr4:25156655 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1026+8T>C single nucleotide variant not provided [RCV001409607] Chr4:25144766 [GRCh38]
Chr4:25146388 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.835del (p.Val279fs) deletion not provided [RCV001381255] Chr4:25145103 [GRCh38]
Chr4:25146725 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1263C>T (p.Gly421=) single nucleotide variant not provided [RCV001446681] Chr4:25124174 [GRCh38]
Chr4:25125796 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1455T>C (p.Ala485=) single nucleotide variant not provided [RCV001426750] Chr4:25123982 [GRCh38]
Chr4:25125604 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.115-4T>C single nucleotide variant not provided [RCV001441824] Chr4:25159111 [GRCh38]
Chr4:25160733 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.31C>A (p.Arg11=) single nucleotide variant not provided [RCV001408365] Chr4:25160339 [GRCh38]
Chr4:25161961 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter) single nucleotide variant not provided [RCV001385362] Chr4:25156118 [GRCh38]
Chr4:25157740 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.375T>C (p.Ile125=) single nucleotide variant not provided [RCV001440256] Chr4:25156869 [GRCh38]
Chr4:25158491 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.975T>G (p.Thr325=) single nucleotide variant not provided [RCV001408496] Chr4:25144825 [GRCh38]
Chr4:25146447 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.701+7G>T single nucleotide variant not provided [RCV001411037] Chr4:25154991 [GRCh38]
Chr4:25156613 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.669T>G (p.Thr223=) single nucleotide variant not provided [RCV001445422] Chr4:25155030 [GRCh38]
Chr4:25156652 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.807G>C (p.Gly269=) single nucleotide variant not provided [RCV001448088] Chr4:25145131 [GRCh38]
Chr4:25146753 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1148dup (p.His383fs) duplication not provided [RCV001385772] Chr4:25125756..25125757 [GRCh38]
Chr4:25127378..25127379 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV002499811]|not provided [RCV001389025] Chr4:25145127 [GRCh38]
Chr4:25146749 [GRCh37]
Chr4:4p15.2
pathogenic|likely pathogenic
NM_016955.4(SEPSECS):c.1191C>T (p.Thr397=) single nucleotide variant not provided [RCV001404349] Chr4:25125714 [GRCh38]
Chr4:25127336 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.701+246G>A single nucleotide variant not provided [RCV001590880] Chr4:25154752 [GRCh38]
Chr4:25156374 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.84T>C (p.His28=) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001832625]|not provided [RCV001479231] Chr4:25160286 [GRCh38]
Chr4:25161908 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001725797] Chr4:25160369 [GRCh38]
Chr4:25161991 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.115-8_115-7insC insertion not provided [RCV001516071] Chr4:25159114..25159115 [GRCh38]
Chr4:25160736..25160737 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.702-10A>G single nucleotide variant not provided [RCV001510848] Chr4:25152072 [GRCh38]
Chr4:25153694 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.702-8G>A single nucleotide variant not provided [RCV001487237] Chr4:25152070 [GRCh38]
Chr4:25153692 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.548-185C>T single nucleotide variant not provided [RCV001589555] Chr4:25155336 [GRCh38]
Chr4:25156958 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.389-209del deletion not provided [RCV001672016] Chr4:25156404 [GRCh38]
Chr4:25158026 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.1038A>G (p.Ser346=) single nucleotide variant not provided [RCV001487766] Chr4:25127346 [GRCh38]
Chr4:25128968 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.279T>C (p.His93=) single nucleotide variant not provided [RCV001487768] Chr4:25156965 [GRCh38]
Chr4:25158587 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.548-197G>A single nucleotide variant not provided [RCV001586965] Chr4:25155348 [GRCh38]
Chr4:25156970 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.270-300G>T single nucleotide variant not provided [RCV001592667] Chr4:25157274 [GRCh38]
Chr4:25158896 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.90C>T (p.His30=) single nucleotide variant not provided [RCV001478276] Chr4:25160280 [GRCh38]
Chr4:25161902 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1063T>C (p.Leu355=) single nucleotide variant not provided [RCV001501500] Chr4:25127321 [GRCh38]
Chr4:25128943 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+139_388+148del deletion not provided [RCV001674641] Chr4:25156708..25156717 [GRCh38]
Chr4:25158330..25158339 [GRCh37]
Chr4:4p15.2
benign
NM_016955.4(SEPSECS):c.702-293del deletion not provided [RCV001530650] Chr4:25152355 [GRCh38]
Chr4:25153977 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.228A>G (p.Glu76=) single nucleotide variant not provided [RCV001462487] Chr4:25158994 [GRCh38]
Chr4:25160616 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1143T>C (p.Asp381=) single nucleotide variant not provided [RCV001456745] Chr4:25125762 [GRCh38]
Chr4:25127384 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.114+8G>C single nucleotide variant not provided [RCV001481377] Chr4:25160248 [GRCh38]
Chr4:25161870 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.819T>C (p.Gly273=) single nucleotide variant not provided [RCV001417315] Chr4:25145119 [GRCh38]
Chr4:25146741 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1357A>C (p.Arg453=) single nucleotide variant not provided [RCV001469999] Chr4:25124080 [GRCh38]
Chr4:25125702 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1434T>C (p.Asp478=) single nucleotide variant not provided [RCV001458443] Chr4:25124003 [GRCh38]
Chr4:25125625 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.888T>C (p.Ala296=) single nucleotide variant not provided [RCV001491509] Chr4:25145050 [GRCh38]
Chr4:25146672 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1266T>C (p.Phe422=) single nucleotide variant not provided [RCV001505144] Chr4:25124171 [GRCh38]
Chr4:25125793 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.444A>G (p.Leu148=) single nucleotide variant not provided [RCV001443167] Chr4:25156140 [GRCh38]
Chr4:25157762 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1211+9G>A single nucleotide variant not provided [RCV001438325] Chr4:25125685 [GRCh38]
Chr4:25127307 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1341G>A (p.Val447=) single nucleotide variant not provided [RCV001432555] Chr4:25124096 [GRCh38]
Chr4:25125718 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.639G>A (p.Gly213=) single nucleotide variant not provided [RCV001415841] Chr4:25155060 [GRCh38]
Chr4:25156682 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1089G>T (p.Leu363=) single nucleotide variant not provided [RCV001436544] Chr4:25127295 [GRCh38]
Chr4:25128917 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.945A>G (p.Ser315=) single nucleotide variant not provided [RCV001443632] Chr4:25144855 [GRCh38]
Chr4:25146477 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1497T>G (p.Ala499=) single nucleotide variant not provided [RCV001504010] Chr4:25123940 [GRCh38]
Chr4:25125562 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.531A>G (p.Lys177=) single nucleotide variant not provided [RCV001504027] Chr4:25156053 [GRCh38]
Chr4:25157675 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1290T>A (p.Pro430=) single nucleotide variant not provided [RCV001499614] Chr4:25124147 [GRCh38]
Chr4:25125769 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.783G>A (p.Lys261=) single nucleotide variant not provided [RCV001416824] Chr4:25151981 [GRCh38]
Chr4:25153603 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1441A>G (p.Ile481Val) single nucleotide variant not provided [RCV001756285] Chr4:25123996 [GRCh38]
Chr4:25125618 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.140A>G (p.Asp47Gly) single nucleotide variant not provided [RCV001763919] Chr4:25159082 [GRCh38]
Chr4:25160704 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.760G>A (p.Ala254Thr) single nucleotide variant not provided [RCV001764010] Chr4:25152004 [GRCh38]
Chr4:25153626 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.74G>T (p.Arg25Leu) single nucleotide variant not provided [RCV001756757] Chr4:25160296 [GRCh38]
Chr4:25161918 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.436A>G (p.Met146Val) single nucleotide variant not provided [RCV001765737] Chr4:25156148 [GRCh38]
Chr4:25157770 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1213G>T (p.Val405Phe) single nucleotide variant not provided [RCV001754258] Chr4:25124224 [GRCh38]
Chr4:25125846 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) single nucleotide variant Pontocerebellar hypoplasia type 2D [RCV001799578] Chr4:25156117 [GRCh38]
Chr4:25157739 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.671C>T (p.Thr224Ile) single nucleotide variant not provided [RCV001929366] Chr4:25155028 [GRCh38]
Chr4:25156650 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1496C>T (p.Ala499Val) single nucleotide variant not provided [RCV001927215] Chr4:25123941 [GRCh38]
Chr4:25125563 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.903del (p.Phe302fs) deletion not provided [RCV001928406] Chr4:25145035 [GRCh38]
Chr4:25146657 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1111A>C (p.Ile371Leu) single nucleotide variant not provided [RCV001912777] Chr4:25127273 [GRCh38]
Chr4:25128895 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1360C>A (p.Leu454Ile) single nucleotide variant not provided [RCV001914471] Chr4:25124077 [GRCh38]
Chr4:25125699 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.908_911del (p.Ile303fs) microsatellite not provided [RCV001950169] Chr4:25145027..25145030 [GRCh38]
Chr4:25146649..25146652 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1150C>T (p.Arg384Cys) single nucleotide variant not provided [RCV001985302] Chr4:25125755 [GRCh38]
Chr4:25127377 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14
pathogenic
NM_016955.4(SEPSECS):c.214G>A (p.Val72Met) single nucleotide variant not provided [RCV001894940] Chr4:25159008 [GRCh38]
Chr4:25160630 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608) copy number loss not specified [RCV002053411] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1
likely pathogenic
NM_016955.4(SEPSECS):c.94A>G (p.Ile32Val) single nucleotide variant not provided [RCV001823404] Chr4:25160276 [GRCh38]
Chr4:25161898 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.124C>A (p.Pro42Thr) single nucleotide variant not provided [RCV001948617] Chr4:25159098 [GRCh38]
Chr4:25160720 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1432G>A (p.Asp478Asn) single nucleotide variant not provided [RCV001961880] Chr4:25124005 [GRCh38]
Chr4:25125627 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1222C>G (p.Leu408Val) single nucleotide variant not provided [RCV001980139] Chr4:25124215 [GRCh38]
Chr4:25125837 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.114+1G>T single nucleotide variant not provided [RCV001959259] Chr4:25160255 [GRCh38]
Chr4:25161877 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.935-2A>G single nucleotide variant not provided [RCV001999677] Chr4:25144867 [GRCh38]
Chr4:25146489 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.32G>C (p.Arg11Pro) single nucleotide variant not provided [RCV002038948] Chr4:25160338 [GRCh38]
Chr4:25161960 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.389-13_404del deletion not provided [RCV001977136] Chr4:25156180..25156208 [GRCh38]
Chr4:25157802..25157830 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.480_481insC (p.Lys161fs) insertion not provided [RCV002037837] Chr4:25156103..25156104 [GRCh38]
Chr4:25157725..25157726 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.805-2A>G single nucleotide variant not provided [RCV002038755] Chr4:25145135 [GRCh38]
Chr4:25146757 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.1406G>A (p.Ser469Asn) single nucleotide variant not provided [RCV001943745] Chr4:25124031 [GRCh38]
Chr4:25125653 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1207G>A (p.Ala403Thr) single nucleotide variant not provided [RCV001973269] Chr4:25125698 [GRCh38]
Chr4:25127320 [GRCh37]
Chr4:4p15.2
uncertain significance
NC_000004.11:g.(?_25146376)_(25146775_?)del deletion not provided [RCV001956232] Chr4:25146376..25146775 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1169_1173del (p.Gln390fs) deletion not provided [RCV001952779] Chr4:25125732..25125736 [GRCh38]
Chr4:25127354..25127358 [GRCh37]
Chr4:4p15.2
pathogenic
NC_000004.11:g.(?_25160565)_(25162001_?)del deletion not provided [RCV001975198] Chr4:25160565..25162001 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1145A>G (p.Glu382Gly) single nucleotide variant not provided [RCV002012924] Chr4:25125760 [GRCh38]
Chr4:25127382 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.595C>T (p.Arg199Cys) single nucleotide variant not provided [RCV001979988] Chr4:25155104 [GRCh38]
Chr4:25156726 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.269+2T>C single nucleotide variant not provided [RCV002048346] Chr4:25158951 [GRCh38]
Chr4:25160573 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.631del (p.Glu211fs) deletion not provided [RCV001994861] Chr4:25155068 [GRCh38]
Chr4:25156690 [GRCh37]
Chr4:4p15.2
pathogenic
NC_000004.11:g.(?_25128876)_(25128989_?)del deletion not provided [RCV001960561] Chr4:25128876..25128989 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.361_362insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTACCAATTCTT (p.Leu121fs) insertion not provided [RCV001923636] Chr4:25156882..25156883 [GRCh38]
Chr4:25158504..25158505 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.482del (p.Lys161fs) deletion not provided [RCV001886107] Chr4:25156102 [GRCh38]
Chr4:25157724 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1178C>A (p.Ser393Ter) single nucleotide variant not provided [RCV001924077] Chr4:25125727 [GRCh38]
Chr4:25127349 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.388+1G>A single nucleotide variant not provided [RCV001998643] Chr4:25156855 [GRCh38]
Chr4:25158477 [GRCh37]
Chr4:4p15.2
likely pathogenic
NM_016955.4(SEPSECS):c.506G>A (p.Arg169Gln) single nucleotide variant not provided [RCV002018601] Chr4:25156078 [GRCh38]
Chr4:25157700 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.154del (p.Glu52fs) deletion not provided [RCV001899880] Chr4:25159068 [GRCh38]
Chr4:25160690 [GRCh37]
Chr4:4p15.2
pathogenic
NM_016955.4(SEPSECS):c.1111A>G (p.Ile371Val) single nucleotide variant not provided [RCV001955146] Chr4:25127273 [GRCh38]
Chr4:25128895 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_016955.4(SEPSECS):c.1503A>G (p.Ser501=) single nucleotide variant not provided [RCV002185642] Chr4:25123934 [GRCh38]
Chr4:25125556 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.648C>T (p.Cys216=) single nucleotide variant not provided [RCV002072529] Chr4:25155051 [GRCh38]
Chr4:25156673 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.174T>C (p.Leu58=) single nucleotide variant not provided [RCV002209579] Chr4:25159048 [GRCh38]
Chr4:25160670 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.548-10G>A single nucleotide variant not provided [RCV002206319] Chr4:25155161 [GRCh38]
Chr4:25156783 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.548-14G>A single nucleotide variant not provided [RCV002205408] Chr4:25155165 [GRCh38]
Chr4:25156787 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.389-5T>C single nucleotide variant not provided [RCV002165808] Chr4:25156200 [GRCh38]
Chr4:25157822 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1120+9T>G single nucleotide variant not provided [RCV002205486] Chr4:25127255 [GRCh38]
Chr4:25128877 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.273C>T (p.Phe91=) single nucleotide variant not provided [RCV002128066] Chr4:25156971 [GRCh38]
Chr4:25158593 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.897T>C (p.Asn299=) single nucleotide variant not provided [RCV002196113] Chr4:25145041 [GRCh38]
Chr4:25146663 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.159C>T (p.Leu53=) single nucleotide variant not provided [RCV002213448] Chr4:25159063 [GRCh38]
Chr4:25160685 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.804+9G>A single nucleotide variant not provided [RCV002207644] Chr4:25151951 [GRCh38]
Chr4:25153573 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.24G>T (p.Ala8=) single nucleotide variant not provided [RCV002110830] Chr4:25160346 [GRCh38]
Chr4:25161968 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.389-11_389-9del microsatellite not provided [RCV002151302] Chr4:25156204..25156206 [GRCh38]
Chr4:25157826..25157828 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.312G>A (p.Val104=) single nucleotide variant not provided [RCV002086675] Chr4:25156932 [GRCh38]
Chr4:25158554 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1027-4G>C single nucleotide variant not provided [RCV002152546] Chr4:25127361 [GRCh38]
Chr4:25128983 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.72C>T (p.Ala24=) single nucleotide variant not provided [RCV002206586] Chr4:25160298 [GRCh38]
Chr4:25161920 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1005G>A (p.Lys335=) single nucleotide variant not provided [RCV002215894] Chr4:25144795 [GRCh38]
Chr4:25146417 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.666T>G (p.Ser222=) single nucleotide variant not provided [RCV002150466] Chr4:25155033 [GRCh38]
Chr4:25156655 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.681T>C (p.Phe227=) single nucleotide variant not provided [RCV002216016] Chr4:25155018 [GRCh38]
Chr4:25156640 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.388+12C>G single nucleotide variant not provided [RCV002097390] Chr4:25156844 [GRCh38]
Chr4:25158466 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1485A>T (p.Thr495=) single nucleotide variant not provided [RCV002151547] Chr4:25123952 [GRCh38]
Chr4:25125574 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.807G>T (p.Gly269=) single nucleotide variant not provided [RCV002093857] Chr4:25145131 [GRCh38]
Chr4:25146753 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.621T>C (p.Ala207=) single nucleotide variant not provided [RCV002116206] Chr4:25155078 [GRCh38]
Chr4:25156700 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.366C>T (p.Val122=) single nucleotide variant not provided [RCV002110363] Chr4:25156878 [GRCh38]
Chr4:25158500 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.699T>C (p.Asp233=) single nucleotide variant not provided [RCV002097254] Chr4:25155000 [GRCh38]
Chr4:25156622 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.171A>G (p.Glu57=) single nucleotide variant not provided [RCV002214614] Chr4:25159051 [GRCh38]
Chr4:25160673 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.771G>A (p.Val257=) single nucleotide variant not provided [RCV002091013] Chr4:25151993 [GRCh38]
Chr4:25153615 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.795C>G (p.Leu265=) single nucleotide variant not provided [RCV002194742] Chr4:25151969 [GRCh38]
Chr4:25153591 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.693G>T (p.Val231=) single nucleotide variant not provided [RCV002194780] Chr4:25155006 [GRCh38]
Chr4:25156628 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.805-14_805-10del deletion not provided [RCV002173643] Chr4:25145143..25145147 [GRCh38]
Chr4:25146765..25146769 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1212-14C>T single nucleotide variant not provided [RCV002188756] Chr4:25124239 [GRCh38]
Chr4:25125861 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.318A>G (p.Pro106=) single nucleotide variant not provided [RCV002131021] Chr4:25156926 [GRCh38]
Chr4:25158548 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1209C>T (p.Ala403=) single nucleotide variant not provided [RCV002134539] Chr4:25125696 [GRCh38]
Chr4:25127318 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.115-16T>G single nucleotide variant not provided [RCV002207323] Chr4:25159123 [GRCh38]
Chr4:25160745 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.150A>G (p.Thr50=) single nucleotide variant not provided [RCV002152566] Chr4:25159072 [GRCh38]
Chr4:25160694 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1368G>A (p.Arg456=) single nucleotide variant not provided [RCV002197119] Chr4:25124069 [GRCh38]
Chr4:25125691 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1419T>C (p.Tyr473=) single nucleotide variant not provided [RCV002201094] Chr4:25124018 [GRCh38]
Chr4:25125640 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.435T>C (p.Gly145=) single nucleotide variant not provided [RCV002179237] Chr4:25156149 [GRCh38]
Chr4:25157771 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.558T>C (p.Pro186=) single nucleotide variant not provided [RCV002157790] Chr4:25155141 [GRCh38]
Chr4:25156763 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.132T>C (p.Asn44=) single nucleotide variant not provided [RCV002203983] Chr4:25159090 [GRCh38]
Chr4:25160712 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1026+19T>C single nucleotide variant not provided [RCV002137927] Chr4:25144755 [GRCh38]
Chr4:25146377 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.513C>T (p.Asp171=) single nucleotide variant not provided [RCV002124135] Chr4:25156071 [GRCh38]
Chr4:25157693 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1089G>C (p.Leu363=) single nucleotide variant not provided [RCV002142095] Chr4:25127295 [GRCh38]
Chr4:25128917 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.285T>C (p.Ile95=) single nucleotide variant not provided [RCV002203528] Chr4:25156959 [GRCh38]
Chr4:25158581 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1110C>T (p.Pro370=) single nucleotide variant not provided [RCV002083300] Chr4:25127274 [GRCh38]
Chr4:25128896 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.39G>C (p.Val13=) single nucleotide variant not provided [RCV002118262] Chr4:25160331 [GRCh38]
Chr4:25161953 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.389-7T>C single nucleotide variant not provided [RCV002101586] Chr4:25156202 [GRCh38]
Chr4:25157824 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.417A>G (p.Val139=) single nucleotide variant not provided [RCV002081260] Chr4:25156167 [GRCh38]
Chr4:25157789 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.411C>T (p.Cys137=) single nucleotide variant not provided [RCV002121299] Chr4:25156173 [GRCh38]
Chr4:25157795 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.186C>T (p.Asp62=) single nucleotide variant not provided [RCV002103231] Chr4:25159036 [GRCh38]
Chr4:25160658 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1362T>G (p.Leu454=) single nucleotide variant not provided [RCV002184616] Chr4:25124075 [GRCh38]
Chr4:25125697 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.935-6T>C single nucleotide variant not provided [RCV002221093] Chr4:25144871 [GRCh38]
Chr4:25146493 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.771G>T (p.Val257=) single nucleotide variant not provided [RCV002179882] Chr4:25151993 [GRCh38]
Chr4:25153615 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.390T>C (p.Gly130=) single nucleotide variant not provided [RCV002198867] Chr4:25156194 [GRCh38]
Chr4:25157816 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.363G>A (p.Leu121=) single nucleotide variant not provided [RCV002140050] Chr4:25156881 [GRCh38]
Chr4:25158503 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.504A>G (p.Pro168=) single nucleotide variant not provided [RCV002159361] Chr4:25156080 [GRCh38]
Chr4:25157702 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.548-10G>C single nucleotide variant not provided [RCV002135609] Chr4:25155161 [GRCh38]
Chr4:25156783 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.389-6T>C single nucleotide variant not provided [RCV002198537] Chr4:25156201 [GRCh38]
Chr4:25157823 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.1120+9T>C single nucleotide variant not provided [RCV002183929] Chr4:25127255 [GRCh38]
Chr4:25128877 [GRCh37]
Chr4:4p15.2
likely benign
NM_016955.4(SEPSECS):c.805-8G>A single nucleotide variant not provided [RCV002198804] Chr4:25145141 [GRCh38]
Chr4:25146763 [GRCh37]
Chr4:4p15.2
likely benign
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4761
Count of miRNA genes:1059
Interacting mature miRNAs:1285
Transcripts:ENST00000302922, ENST00000358971, ENST00000382103, ENST00000503150, ENST00000505513, ENST00000513285, ENST00000514585, ENST00000515272
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.

Markers in Region
SHGC-79143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,123,073 - 25,123,380UniSTSGRCh37
Build 36424,732,171 - 24,732,478RGDNCBI36
Celera425,571,870 - 25,572,177RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,463,697 - 24,464,004UniSTS
TNG Radiation Hybrid Map415347.0UniSTS
SHGC-105226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,122,947 - 25,123,225UniSTSGRCh37
Build 36424,732,045 - 24,732,323RGDNCBI36
Celera425,571,744 - 25,572,022RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,463,571 - 24,463,849UniSTS
TNG Radiation Hybrid Map415347.0UniSTS
SHGC-64855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,121,701 - 25,121,794UniSTSGRCh37
Build 36424,730,799 - 24,730,892RGDNCBI36
Celera425,570,498 - 25,570,591RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,462,325 - 24,462,418UniSTS
TNG Radiation Hybrid Map415347.0UniSTS
RH46210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,121,776 - 25,121,912UniSTSGRCh37
Build 36424,730,874 - 24,731,010RGDNCBI36
Celera425,570,573 - 25,570,709RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,462,400 - 24,462,536UniSTS
GeneMap99-GB4 RH Map495.96UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 279 53 626 314 676 311 869 50 425 147 432 515 7 133 588 1
Low 2160 2740 1100 310 1106 154 3488 2118 3300 272 1028 1098 167 1 1071 2200 5 2
Below cutoff 198 169 29 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW515989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN429794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA155173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358971   ⟹   ENSP00000351857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,122,255 - 25,160,394 (-)Ensembl
RefSeq Acc Id: ENST00000382103   ⟹   ENSP00000371535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,120,014 - 25,160,449 (-)Ensembl
RefSeq Acc Id: ENST00000503150   ⟹   ENSP00000423850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,124,081 - 25,156,098 (-)Ensembl
RefSeq Acc Id: ENST00000505513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,127,264 - 25,155,231 (-)Ensembl
RefSeq Acc Id: ENST00000513285   ⟹   ENSP00000423361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,158,945 - 25,160,398 (-)Ensembl
RefSeq Acc Id: ENST00000514585   ⟹   ENSP00000421880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,123,850 - 25,160,431 (-)Ensembl
RefSeq Acc Id: ENST00000515272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,125,301 - 25,127,308 (-)Ensembl
RefSeq Acc Id: ENST00000680581   ⟹   ENSP00000506483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,120,083 - 25,160,550 (-)Ensembl
RefSeq Acc Id: ENST00000680824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,120,079 - 25,160,437 (-)Ensembl
RefSeq Acc Id: ENST00000681071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,120,083 - 25,157,535 (-)Ensembl
RefSeq Acc Id: ENST00000681166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,154,199 - 25,160,268 (-)Ensembl
RefSeq Acc Id: ENST00000681341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,120,083 - 25,160,362 (-)Ensembl
RefSeq Acc Id: ENST00000681374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,120,083 - 25,126,260 (-)Ensembl
RefSeq Acc Id: ENST00000681640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,153,721 - 25,160,463 (-)Ensembl
RefSeq Acc Id: ENST00000681948   ⟹   ENSP00000505991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl425,120,067 - 25,160,546 (-)Ensembl
RefSeq Acc Id: NM_016955   ⟹   NP_058651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,120,014 - 25,160,449 (-)NCBI
GRCh37425,121,627 - 25,162,204 (-)ENTREZGENE
Build 36424,734,651 - 24,771,007 (-)NCBI Archive
HuRef424,462,251 - 24,502,807 (-)ENTREZGENE
CHM1_1425,120,960 - 25,161,508 (-)NCBI
T2T-CHM13v2.0425,101,930 - 25,142,372 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513846   ⟹   XP_011512148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,120,014 - 25,160,449 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513847   ⟹   XP_011512149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,120,014 - 25,160,449 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513848   ⟹   XP_011512150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,120,014 - 25,159,855 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008277   ⟹   XP_016863766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,120,014 - 25,160,449 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047415762   ⟹   XP_047271718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,120,014 - 25,160,582 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_058651   ⟸   NM_016955
- UniProtKB: Q9Y353 (UniProtKB/Swiss-Prot),   Q9HD40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512150   ⟸   XM_011513848
- Peptide Label: isoform X4
- UniProtKB: Q9HD40 (UniProtKB/Swiss-Prot),   A1A4F3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512148   ⟸   XM_011513846
- Peptide Label: isoform X2
- UniProtKB: Q9HD40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512149   ⟸   XM_011513847
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016863766   ⟸   XM_017008277
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000423850   ⟸   ENST00000503150
RefSeq Acc Id: ENSP00000423361   ⟸   ENST00000513285
RefSeq Acc Id: ENSP00000421880   ⟸   ENST00000514585
RefSeq Acc Id: ENSP00000371535   ⟸   ENST00000382103
RefSeq Acc Id: ENSP00000351857   ⟸   ENST00000358971
RefSeq Acc Id: ENSP00000505991   ⟸   ENST00000681948
RefSeq Acc Id: ENSP00000506483   ⟸   ENST00000680581
RefSeq Acc Id: XP_047271718   ⟸   XM_047415762
- Peptide Label: isoform X4
- UniProtKB: A1A4F3 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HD40-F1-model_v2 AlphaFold Q9HD40 1-501 view protein structure

Promoters
RGD ID:6802700
Promoter ID:HG_KWN:47984
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000302922,   ENST00000382103,   NM_016955,   UC003GRI.1,   UC003GRJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36424,770,986 - 24,771,486 (+)MPROMDB
RGD ID:6867150
Promoter ID:EPDNEW_H6740
Type:initiation region
Name:SEPSECS_1
Description:Sep (O-phosphoserine) tRNA:Sec tRNA synthase
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
GRCh38425,160,407 - 25,160,467EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30605 AgrOrtholog
COSMIC SEPSECS COSMIC
Ensembl Genes ENSG00000109618 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351857.3 UniProtKB/TrEMBL
  ENSP00000371535 ENTREZGENE
  ENSP00000371535.2 UniProtKB/Swiss-Prot
  ENSP00000421880.1 UniProtKB/Swiss-Prot
  ENSP00000423850.1 UniProtKB/TrEMBL
  ENSP00000505991 ENTREZGENE
  ENSP00000505991.1 UniProtKB/TrEMBL
  ENSP00000506483.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000358971.7 UniProtKB/TrEMBL
  ENST00000382103 ENTREZGENE
  ENST00000382103.7 UniProtKB/Swiss-Prot
  ENST00000503150.1 UniProtKB/TrEMBL
  ENST00000514585.5 UniProtKB/Swiss-Prot
  ENST00000680581.1 UniProtKB/TrEMBL
  ENST00000680824 ENTREZGENE
  ENST00000681071 ENTREZGENE
  ENST00000681948 ENTREZGENE
  ENST00000681948.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000109618 GTEx
HGNC ID HGNC:30605 ENTREZGENE
Human Proteome Map SEPSECS Human Proteome Map
InterPro Peroxidases_heam-ligand_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec-tRNA_Se_transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SepSecS/SepCysS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51091 UniProtKB/Swiss-Prot
NCBI Gene 51091 ENTREZGENE
OMIM 613009 OMIM
  613811 OMIM
PANTHER PTHR12944 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SepSecS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162402915 PharmGKB
PIRSF SepSecS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PEROXIDASE_1 UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs selenium_SpcS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0TA23 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0Z4P3_HUMAN UniProtKB/TrEMBL
  A1A4F3 ENTREZGENE, UniProtKB/TrEMBL
  H0Y9D2_HUMAN UniProtKB/TrEMBL
  J3KP25_HUMAN UniProtKB/TrEMBL
  Q9HD40 ENTREZGENE
  Q9Y353 ENTREZGENE
  SPCS_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K8W1 UniProtKB/Swiss-Prot
  Q0D2P3 UniProtKB/Swiss-Prot
  Q17RT1 UniProtKB/Swiss-Prot
  Q9NXZ5 UniProtKB/Swiss-Prot
  Q9UGM9 UniProtKB/Swiss-Prot
  Q9Y353 UniProtKB/Swiss-Prot