BICRA (BRD4 interacting chromatin remodeling complex associated protein) - Rat Genome Database

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Gene: BICRA (BRD4 interacting chromatin remodeling complex associated protein) Homo sapiens
Analyze
Symbol: BICRA
Name: BRD4 interacting chromatin remodeling complex associated protein
RGD ID: 1314970
HGNC Page HGNC:4332
Description: Enables transcription regulator activator activity. Involved in positive regulation of DNA-templated transcription. Located in nucleus. Part of SWI/SNF complex. Implicated in Coffin-Siris syndrome 12.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CSS12; glioma tumor suppressor candidate region gene 1; glioma tumor suppressor candidate region gene 1 protein; GLTSCR1; SMARCK1
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
GRCh381947,608,196 - 47,703,277 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1947,608,196 - 47,703,277 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,111,453 - 48,206,534 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361952,874,031 - 52,898,291 (+)NCBINCBI36Build 36hg18NCBI36
Build 341952,874,030 - 52,898,291NCBI
Celera1944,917,158 - 45,012,242 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1944,539,001 - 44,633,232 (+)NCBIHuRef
CHM1_11948,113,705 - 48,208,894 (+)NCBICHM1_1
T2T-CHM13v2.01950,439,021 - 50,534,101 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (NAS)
GBAF complex  (NAS)
nucleus  (IEA,IMP)
SWI/SNF complex  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Anteverted nares  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Broad thumb  (IAGP)
Bulbous nose  (IAGP)
Celiac disease  (IAGP)
Chiari malformation  (IAGP)
Chronic constipation  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous syndactyly  (IAGP)
Deeply set eye  (IAGP)
Delayed cranial suture closure  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Enlarged cerebellum  (IAGP)
Epicanthus  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Heart murmur  (IAGP)
High anterior hairline  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip subluxation  (IAGP)
Hippocampal atrophy  (IAGP)
Horseshoe kidney  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Inverted nipples  (IAGP)
Joint hypermobility  (IAGP)
Large earlobe  (IAGP)
Long eyelashes  (IAGP)
Low anterior hairline  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Motor stereotypy  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Narrow palpebral fissure  (IAGP)
Noncommunicating hydrocephalus  (IAGP)
Oral motor hypotonia  (IAGP)
Overfolding of the superior helices  (IAGP)
Patent foramen ovale  (IAGP)
Pectus excavatum  (IAGP)
Pointed chin  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent antihelix  (IAGP)
Prominent glabella  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nasal tip  (IAGP)
Protruding ear  (IAGP)
Radioulnar synostosis  (IAGP)
Ridged cranial sutures  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Simple ear  (IAGP)
Sleep abnormality  (IAGP)
Slender finger  (IAGP)
Small nail  (IAGP)
Sparse scalp hair  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Synophrys  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Velopharyngeal insufficiency  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10708517   PMID:12117772   PMID:12477932   PMID:14702039   PMID:15834925   PMID:17474147   PMID:20150366   PMID:20379614   PMID:20936779   PMID:21555454   PMID:21873635   PMID:22174851  
PMID:24981860   PMID:24999758   PMID:26186194   PMID:26496610   PMID:28514442   PMID:28611215   PMID:29374058   PMID:29395067   PMID:30128886   PMID:30291333   PMID:30510198   PMID:30554943  
PMID:31010829   PMID:31753913   PMID:32513696   PMID:32694731   PMID:33232675   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34591612   PMID:35013218   PMID:35044719   PMID:35140242  
PMID:35218185   PMID:35271311   PMID:35439318   PMID:35748872   PMID:35987950   PMID:36373674   PMID:36437209   PMID:36724073   PMID:38297188   PMID:38360978  


Genomics

Comparative Map Data
BICRA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381947,608,196 - 47,703,277 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1947,608,196 - 47,703,277 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,111,453 - 48,206,534 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361952,874,031 - 52,898,291 (+)NCBINCBI36Build 36hg18NCBI36
Build 341952,874,030 - 52,898,291NCBI
Celera1944,917,158 - 45,012,242 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1944,539,001 - 44,633,232 (+)NCBIHuRef
CHM1_11948,113,705 - 48,208,894 (+)NCBICHM1_1
T2T-CHM13v2.01950,439,021 - 50,534,101 (+)NCBIT2T-CHM13v2.0
Bicra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39715,704,596 - 15,785,047 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl715,704,597 - 15,781,846 (-)EnsemblGRCm39 Ensembl
GRCm38715,970,671 - 16,048,146 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl715,970,672 - 16,047,921 (-)EnsemblGRCm38mm10GRCm38
MGSCv37716,556,611 - 16,584,844 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36715,129,192 - 15,158,017 (-)NCBIMGSCv36mm8
Celera713,169,953 - 13,197,925 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map78.67NCBI
Bicra
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8185,790,093 - 85,867,656 (-)NCBIGRCr8
mRatBN7.2176,661,897 - 76,736,146 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl176,661,897 - 76,737,157 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx182,035,899 - 82,060,496 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0190,599,958 - 90,624,555 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0183,791,039 - 83,815,618 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0177,869,020 - 77,943,828 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl177,869,020 - 77,893,509 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,133,679 - 79,211,053 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4176,318,931 - 76,321,319 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1176,392,629 - 76,418,778 (-)NCBI
Celera171,152,229 - 71,176,718 (-)NCBICelera
Cytogenetic Map1q21NCBI
Bicra
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555741,465,377 - 1,485,646 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555741,463,656 - 1,484,709 (+)NCBIChiLan1.0ChiLan1.0
BICRA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22053,755,851 - 53,856,662 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11955,625,824 - 55,726,687 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01944,600,696 - 44,697,643 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11953,254,437 - 53,351,847 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1953,323,064 - 53,350,987 (+)Ensemblpanpan1.1panPan2
BICRA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11108,344,245 - 108,427,133 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1107,826,216 - 107,908,663 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01108,870,018 - 108,953,510 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1108,869,137 - 108,952,561 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11108,537,676 - 108,620,815 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01108,182,456 - 108,264,770 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01109,050,449 - 109,134,058 (-)NCBIUU_Cfam_GSD_1.0
Bicra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934919,622,898 - 19,691,985 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366641,287,475 - 1,309,232 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366641,241,048 - 1,310,114 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BICRA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl653,339,192 - 53,415,937 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1653,339,166 - 53,416,834 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2648,921,977 - 48,946,945 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BICRA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,927,931 - 41,024,080 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl640,990,615 - 41,023,222 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607320,671,895 - 20,776,984 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bicra
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248326,172,642 - 6,195,243 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248326,171,923 - 6,237,198 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BICRA
187 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1 copy number loss See cases [RCV000053976] Chr19:46458122..47683579 [GRCh38]
Chr19:46961379..48186836 [GRCh37]
Chr19:51653219..52878648 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
NM_001394372.1(BICRA):c.868C>T (p.Gln290Ter) single nucleotide variant not provided [RCV001291559] Chr19:47680038 [GRCh38]
Chr19:48183295 [GRCh37]
Chr19:19q13.33		 likely pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3 copy number gain See cases [RCV000138849] Chr19:47253630..47744714 [GRCh38]
Chr19:47756887..48247971 [GRCh37]
Chr19:52448727..52939783 [NCBI36]
Chr19:19q13.32-13.33		 likely benign
GRCh37/hg19 19q13.33(chr19:48085766-48160500)x3 copy number gain Premature ovarian failure [RCV000225331] Chr19:48085766..48160500 [GRCh37]
Chr19:19q13.33		 benign
GRCh38/hg38 19q13.33(chr19:47559877-47778812)x1 copy number loss Premature ovarian failure [RCV000225133] Chr19:47559877..47778812 [GRCh38]
Chr19:48063134..48282069 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1602C>A (p.Ser534=) single nucleotide variant BICRA-related condition [RCV003906690]|not provided [RCV003312451] Chr19:47680772 [GRCh38]
Chr19:48184029 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.3148G>A (p.Ala1050Thr) single nucleotide variant not provided [RCV003314826] Chr19:47695436 [GRCh38]
Chr19:48198693 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3077-2_3077del deletion not specified [RCV000455685] Chr19:47695363..47695365 [GRCh38]
Chr19:48198620..48198622 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 copy number loss See cases [RCV000511362] Chr19:46404248..48488721 [GRCh37]
Chr19:19q13.32-13.33		 likely pathogenic
NM_001394372.1(BICRA):c.3832G>C (p.Ala1278Pro) single nucleotide variant Inborn genetic diseases [RCV003281289] Chr19:47701564 [GRCh38]
Chr19:48204821 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1181C>T (p.Pro394Leu) single nucleotide variant not provided [RCV003318058] Chr19:47680351 [GRCh38]
Chr19:48183608 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2788C>T (p.Pro930Ser) single nucleotide variant Inborn genetic diseases [RCV003289882] Chr19:47694619 [GRCh38]
Chr19:48197876 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001394372.1(BICRA):c.3094C>G (p.Pro1032Ala) single nucleotide variant Inborn genetic diseases [RCV003278022] Chr19:47695382 [GRCh38]
Chr19:48198639 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4150C>T (p.Arg1384Cys) single nucleotide variant Inborn genetic diseases [RCV003295188] Chr19:47701882 [GRCh38]
Chr19:48205139 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2474C>T (p.Pro825Leu) single nucleotide variant Inborn genetic diseases [RCV003240199] Chr19:47694305 [GRCh38]
Chr19:48197562 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3 copy number gain not provided [RCV000684075] Chr19:48206212..48431087 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:48190194-48193124)x1 copy number loss not provided [RCV000740192] Chr19:48190194..48193124 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.2047C>T (p.Pro683Ser) single nucleotide variant BICRA-related condition [RCV003975852]|not provided [RCV001668720] Chr19:47681217 [GRCh38]
Chr19:48184474 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.4616A>G (p.His1539Arg) single nucleotide variant Inborn genetic diseases [RCV003244022] Chr19:47702348 [GRCh38]
Chr19:48205605 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33		 uncertain significance
NM_001394372.1(BICRA):c.1429G>A (p.Ala477Thr) single nucleotide variant Inborn genetic diseases [RCV003267536] Chr19:47680599 [GRCh38]
Chr19:48183856 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) copy number gain not provided [RCV000767770] Chr19:47036361..48525536 [GRCh37]
Chr19:19q13.32-13.33		 pathogenic
NM_001394372.1(BICRA):c.4467C>T (p.Ser1489=) single nucleotide variant not provided [RCV000893049] Chr19:47702199 [GRCh38]
Chr19:48205456 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.32-13.33(chr19:47785567-48178258)x3 copy number gain not provided [RCV000848975] Chr19:47785567..48178258 [GRCh37]
Chr19:19q13.32-13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2283+10C>T single nucleotide variant not provided [RCV000962751] Chr19:47682162 [GRCh38]
Chr19:48185419 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_001394372.1(BICRA):c.2603C>T (p.Pro868Leu) single nucleotide variant Inborn genetic diseases [RCV003248225] Chr19:47694434 [GRCh38]
Chr19:48197691 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4229G>A (p.Arg1410Gln) single nucleotide variant Inborn genetic diseases [RCV003271439] Chr19:47701961 [GRCh38]
Chr19:48205218 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1855C>T (p.Leu619Phe) single nucleotide variant Inborn genetic diseases [RCV003249018]|not provided [RCV003427721] Chr19:47681025 [GRCh38]
Chr19:48184282 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.722C>G (p.Pro241Arg) single nucleotide variant Inborn genetic diseases [RCV003272635] Chr19:47679892 [GRCh38]
Chr19:48183149 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1639A>T (p.Ile547Phe) single nucleotide variant not provided [RCV003234448] Chr19:47680809 [GRCh38]
Chr19:48184066 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4649_4661dup (p.Ala1555fs) duplication Coffin-Siris syndrome 12 [RCV003232042] Chr19:47702380..47702381 [GRCh38]
Chr19:48205637..48205638 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.145C>T (p.Pro49Ser) single nucleotide variant Coffin-Siris syndrome 12 [RCV003128215] Chr19:47675911 [GRCh38]
Chr19:48179168 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.687A>G (p.Thr229=) single nucleotide variant not provided [RCV001639766] Chr19:47679857 [GRCh38]
Chr19:48183114 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.360C>T (p.Ala120=) single nucleotide variant BICRA-related condition [RCV003975996]|not provided [RCV001693277] Chr19:47679530 [GRCh38]
Chr19:48182787 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.2106+14G>A single nucleotide variant not provided [RCV001609389] Chr19:47681290 [GRCh38]
Chr19:48184547 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_001394372.1(BICRA):c.2734_2737del (p.Pro912fs) microsatellite Coffin-Siris syndrome 12 [RCV003232041] Chr19:47694561..47694564 [GRCh38]
Chr19:48197818..48197821 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.4424G>A (p.Arg1475His) single nucleotide variant Inborn genetic diseases [RCV003253092]|not provided [RCV003883975] Chr19:47702156 [GRCh38]
Chr19:48205413 [GRCh37]
Chr19:19q13.33		 benign|uncertain significance
GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3 copy number gain not provided [RCV001007054] Chr19:48043102..48402210 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.535C>T (p.Gln179Ter) single nucleotide variant not provided [RCV001594098] Chr19:47679705 [GRCh38]
Chr19:48182962 [GRCh37]
Chr19:19q13.33		 pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3 copy number gain not provided [RCV001007053] Chr19:47331662..48234260 [GRCh37]
Chr19:19q13.32-13.33		 uncertain significance
NM_001394372.1(BICRA):c.519T>C (p.Pro173=) single nucleotide variant not provided [RCV001667347] Chr19:47679689 [GRCh38]
Chr19:48182946 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.1999_2003dup (p.Gly669fs) microsatellite not provided [RCV002284844] Chr19:47681160..47681161 [GRCh38]
Chr19:48184417..48184418 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.3247dup (p.Cys1083fs) duplication Coffin-Siris syndrome 12 [RCV001431527]|Intellectual disability [RCV001290424] Chr19:47696510..47696511 [GRCh38]
Chr19:48199767..48199768 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.936del (p.Ala313fs) deletion BICRA-related condition [RCV001310215]|Coffin-Siris syndrome 12 [RCV001431521] Chr19:47680105 [GRCh38]
Chr19:48183362 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter) single nucleotide variant Coffin-Siris syndrome 12 [RCV001431523] Chr19:47681163 [GRCh38]
Chr19:48184420 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.2479_2480delinsA (p.Ala827fs) indel Coffin-Siris syndrome 12 [RCV001431525] Chr19:47694310..47694311 [GRCh38]
Chr19:48197567..48197568 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.192G>C (p.Glu64Asp) single nucleotide variant Coffin-Siris syndrome 12 [RCV001431529] Chr19:47679362 [GRCh38]
Chr19:48182619 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.3248+1G>A single nucleotide variant Coffin-Siris syndrome 12 [RCV002249297] Chr19:47696513 [GRCh38]
Chr19:48199770 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.88G>C (p.Asp30His) single nucleotide variant not provided [RCV002239981] Chr19:47675854 [GRCh38]
Chr19:48179111 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1707G>C (p.Gln569His) single nucleotide variant not specified [RCV002247069] Chr19:47680877 [GRCh38]
Chr19:48184134 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.2908A>G (p.Ile970Val) single nucleotide variant not provided [RCV001768012] Chr19:47694912 [GRCh38]
Chr19:48198169 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3556A>C (p.Thr1186Pro) single nucleotide variant Developmental disorder [RCV003127404] Chr19:47699366 [GRCh38]
Chr19:48202623 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3679_3680del (p.Leu1227fs) deletion not provided [RCV002280079] Chr19:47701411..47701412 [GRCh38]
Chr19:48204668..48204669 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.99CCT[1] (p.Leu35del) microsatellite not provided [RCV002239982] Chr19:47675865..47675867 [GRCh38]
Chr19:48179122..48179124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.386_401del (p.Phe129fs) deletion Coffin-Siris syndrome 12 [RCV001754554] Chr19:47679552..47679567 [GRCh38]
Chr19:48182809..48182824 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.2075_2078del (p.Thr692fs) microsatellite not provided [RCV001768261] Chr19:47681241..47681244 [GRCh38]
Chr19:48184498..48184501 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_001394372.1(BICRA):c.4190del (p.Gly1397fs) deletion not provided [RCV001776710] Chr19:47701917 [GRCh38]
Chr19:48205174 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.458C>T (p.Ala153Val) single nucleotide variant not provided [RCV001755252] Chr19:47679628 [GRCh38]
Chr19:48182885 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3348_3352del (p.Tyr1117fs) deletion not provided [RCV001755467] Chr19:47698731..47698735 [GRCh38]
Chr19:48201988..48201992 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.338T>G (p.Ile113Ser) single nucleotide variant not provided [RCV001787558] Chr19:47679508 [GRCh38]
Chr19:48182765 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.102C>T (p.Leu34=) single nucleotide variant not provided [RCV001815862] Chr19:47675868 [GRCh38]
Chr19:48179125 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1146C>T (p.Gly382=) single nucleotide variant not provided [RCV001815863] Chr19:47680316 [GRCh38]
Chr19:48183573 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2106G>C (p.Gln702His) single nucleotide variant not provided [RCV001768238] Chr19:47681276 [GRCh38]
Chr19:48184533 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.151-10C>T single nucleotide variant not provided [RCV001840867] Chr19:47679311 [GRCh38]
Chr19:48182568 [GRCh37]
Chr19:19q13.33		 benign
NM_015711.3(BICRA):c.-108G>A single nucleotide variant not provided [RCV001837313] Chr19:47608282 [GRCh38]
Chr19:48111539 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1399C>T (p.Pro467Ser) single nucleotide variant not provided [RCV002034854] Chr19:47680569 [GRCh38]
Chr19:48183826 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.350C>T (p.Thr117Met) single nucleotide variant not provided [RCV002237748] Chr19:47679520 [GRCh38]
Chr19:48182777 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu) single nucleotide variant Coffin-Siris syndrome 12 [RCV003147742]|not provided [RCV002237749]|not specified [RCV003403739] Chr19:47679685 [GRCh38]
Chr19:48182942 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4367C>T (p.Ala1456Val) single nucleotide variant not specified [RCV002247070] Chr19:47702099 [GRCh38]
Chr19:48205356 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.4551G>T (p.Arg1517=) single nucleotide variant not provided [RCV002214122] Chr19:47702283 [GRCh38]
Chr19:48205540 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1381C>A (p.Pro461Thr) single nucleotide variant not specified [RCV002247016] Chr19:47680551 [GRCh38]
Chr19:48183808 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1828G>T (p.Ala610Ser) single nucleotide variant not provided [RCV003110000] Chr19:47680998 [GRCh38]
Chr19:48184255 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3451A>G (p.Met1151Val) single nucleotide variant Inborn genetic diseases [RCV003275908] Chr19:47699018 [GRCh38]
Chr19:48202275 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3034G>T (p.Ala1012Ser) single nucleotide variant not provided [RCV003237213] Chr19:47695038 [GRCh38]
Chr19:48198295 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409) copy number gain Coffin-Siris syndrome 12 [RCV003232036] Chr19:47028919..48185409 [GRCh37]
Chr19:19q13.32-13.33		 likely pathogenic
GRCh37/hg19 19q13.33(chr19:48197371-48246391) copy number loss Coffin-Siris syndrome 12 [RCV003232043] Chr19:48197371..48246391 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.1080G>A (p.Pro360=) single nucleotide variant not provided [RCV002263180] Chr19:47680250 [GRCh38]
Chr19:48183507 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_001394372.1(BICRA):c.2935dup (p.Ala979fs) duplication not provided [RCV002263181] Chr19:47694932..47694933 [GRCh38]
Chr19:48198189..48198190 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys) single nucleotide variant Coffin-Siris syndrome 12 [RCV002275613]|Inborn genetic diseases [RCV003365724] Chr19:47694235 [GRCh38]
Chr19:48197492 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4438C>T (p.Pro1480Ser) single nucleotide variant not provided [RCV002276276] Chr19:47702170 [GRCh38]
Chr19:48205427 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3529C>T (p.Arg1177Ter) single nucleotide variant Coffin-Siris syndrome 12 [RCV002274300] Chr19:47699339 [GRCh38]
Chr19:48202596 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.4551_4552delinsTT (p.Thr1518Ser) indel not provided [RCV002276417] Chr19:47702283..47702284 [GRCh38]
Chr19:48205540..48205541 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2370C>G (p.His790Gln) single nucleotide variant Coffin-Siris syndrome 12 [RCV002275635] Chr19:47694201 [GRCh38]
Chr19:48197458 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4565C>T (p.Ser1522Leu) single nucleotide variant Coffin-Siris syndrome 12 [RCV002266729] Chr19:47702297 [GRCh38]
Chr19:48205554 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1614C>A (p.Ser538Arg) single nucleotide variant Coffin-Siris syndrome 12 [RCV002289410] Chr19:47680784 [GRCh38]
Chr19:48184041 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4343dup (p.Pro1449fs) duplication Coffin-Siris syndrome 12 [RCV002274301] Chr19:47702069..47702070 [GRCh38]
Chr19:48205326..48205327 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.4659C>A (p.Leu1553=) single nucleotide variant not provided [RCV002263182] Chr19:47702391 [GRCh38]
Chr19:48205648 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_001394372.1(BICRA):c.4579G>T (p.Ala1527Ser) single nucleotide variant not provided [RCV002287087] Chr19:47702311 [GRCh38]
Chr19:48205568 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2434C>T (p.Arg812Cys) single nucleotide variant Coffin-Siris syndrome 12 [RCV002289140] Chr19:47694265 [GRCh38]
Chr19:48197522 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.974_987dup (p.Gly330fs) duplication Coffin-Siris syndrome 12 [RCV002287201] Chr19:47680143..47680144 [GRCh38]
Chr19:48183400..48183401 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.1393A>G (p.Met465Val) single nucleotide variant not provided [RCV002281375] Chr19:47680563 [GRCh38]
Chr19:48183820 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1509_1510insA (p.His504fs) insertion Coffin-Siris syndrome 12 [RCV002463467] Chr19:47680679..47680680 [GRCh38]
Chr19:48183936..48183937 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.91A>G (p.Ser31Gly) single nucleotide variant Inborn genetic diseases [RCV003262645] Chr19:47675857 [GRCh38]
Chr19:48179114 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2343C>G (p.His781Gln) single nucleotide variant not provided [RCV003149319] Chr19:47694174 [GRCh38]
Chr19:48197431 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2093T>C (p.Met698Thr) single nucleotide variant Inborn genetic diseases [RCV003282328] Chr19:47681263 [GRCh38]
Chr19:48184520 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4342C>T (p.Pro1448Ser) single nucleotide variant not provided [RCV003154171] Chr19:47702074 [GRCh38]
Chr19:48205331 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3799T>A (p.Ser1267Thr) single nucleotide variant Neurodevelopmental disorder [RCV002472293] Chr19:47701531 [GRCh38]
Chr19:48204788 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.905A>G (p.Asn302Ser) single nucleotide variant not provided [RCV002473984] Chr19:47680075 [GRCh38]
Chr19:48183332 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4414G>T (p.Ala1472Ser) single nucleotide variant not provided [RCV002464709] Chr19:47702146 [GRCh38]
Chr19:48205403 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.797C>T (p.Ala266Val) single nucleotide variant not provided [RCV003233361] Chr19:47679967 [GRCh38]
Chr19:48183224 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1244C>G (p.Pro415Arg) single nucleotide variant not provided [RCV003230067] Chr19:47680414 [GRCh38]
Chr19:48183671 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4162C>T (p.Arg1388Cys) single nucleotide variant not provided [RCV003230175] Chr19:47701894 [GRCh38]
Chr19:48205151 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.639_669del (p.Leu214fs) deletion Coffin-Siris syndrome 12 [RCV003232040] Chr19:47679806..47679836 [GRCh38]
Chr19:48183063..48183093 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.635C>T (p.Pro212Leu) single nucleotide variant not provided [RCV002511447] Chr19:47679805 [GRCh38]
Chr19:48183062 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1921C>T (p.Gln641Ter) single nucleotide variant Coffin-Siris syndrome 12 [RCV002463409] Chr19:47681091 [GRCh38]
Chr19:48184348 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.971C>T (p.Pro324Leu) single nucleotide variant not provided [RCV002511424] Chr19:47680141 [GRCh38]
Chr19:48183398 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter) single nucleotide variant Coffin-Siris syndrome 12 [RCV003147923] Chr19:47681103 [GRCh38]
Chr19:48184360 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.4081G>A (p.Gly1361Ser) single nucleotide variant not provided [RCV002461751] Chr19:47701813 [GRCh38]
Chr19:48205070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1224C>A (p.Asn408Lys) single nucleotide variant Coffin-Siris syndrome 12 [RCV003333222]|not provided [RCV002508742] Chr19:47680394 [GRCh38]
Chr19:48183651 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1364G>A (p.Gly455Asp) single nucleotide variant not provided [RCV002811385] Chr19:47680534 [GRCh38]
Chr19:48183791 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4597G>A (p.Ala1533Thr) single nucleotide variant not provided [RCV002607757] Chr19:47702329 [GRCh38]
Chr19:48205586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1292C>T (p.Thr431Ile) single nucleotide variant not provided [RCV003225519] Chr19:47680462 [GRCh38]
Chr19:48183719 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4546G>A (p.Gly1516Ser) single nucleotide variant Inborn genetic diseases [RCV003207841] Chr19:47702278 [GRCh38]
Chr19:48205535 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2681C>T (p.Thr894Met) single nucleotide variant Inborn genetic diseases [RCV003178886] Chr19:47694512 [GRCh38]
Chr19:48197769 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4510G>A (p.Ala1504Thr) single nucleotide variant not provided [RCV003219011] Chr19:47702242 [GRCh38]
Chr19:48205499 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.290C>T (p.Ala97Val) single nucleotide variant Inborn genetic diseases [RCV003180788] Chr19:47679460 [GRCh38]
Chr19:48182717 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2762C>T (p.Thr921Ile) single nucleotide variant Inborn genetic diseases [RCV003194518] Chr19:47694593 [GRCh38]
Chr19:48197850 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3620C>G (p.Ser1207Trp) single nucleotide variant not provided [RCV003221658] Chr19:47701352 [GRCh38]
Chr19:48204609 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2152G>A (p.Val718Met) single nucleotide variant Inborn genetic diseases [RCV003173199] Chr19:47682021 [GRCh38]
Chr19:48185278 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3029C>T (p.Pro1010Leu) single nucleotide variant Inborn genetic diseases [RCV003306878]|not provided [RCV003427730] Chr19:47695033 [GRCh38]
Chr19:48198290 [GRCh37]
Chr19:19q13.33		 benign|uncertain significance
NM_001394372.1(BICRA):c.2097C>G (p.Phe699Leu) single nucleotide variant Inborn genetic diseases [RCV003209693] Chr19:47681267 [GRCh38]
Chr19:48184524 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3085C>T (p.Pro1029Ser) single nucleotide variant Inborn genetic diseases [RCV003217695] Chr19:47695373 [GRCh38]
Chr19:48198630 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1610A>C (p.His537Pro) single nucleotide variant Inborn genetic diseases [RCV003186064] Chr19:47680780 [GRCh38]
Chr19:48184037 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1671G>T (p.Met557Ile) single nucleotide variant not provided [RCV003223815] Chr19:47680841 [GRCh38]
Chr19:48184098 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2774C>T (p.Thr925Ile) single nucleotide variant Coffin-Siris syndrome 12 [RCV003143784] Chr19:47694605 [GRCh38]
Chr19:48197862 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4253C>T (p.Pro1418Leu) single nucleotide variant Coffin-Siris syndrome 12 [RCV003143785] Chr19:47701985 [GRCh38]
Chr19:48205242 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3081C>T (p.Leu1027=) single nucleotide variant Coffin-Siris syndrome 12 [RCV003143786] Chr19:47695369 [GRCh38]
Chr19:48198626 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3907C>T (p.Arg1303Trp) single nucleotide variant Inborn genetic diseases [RCV003203207] Chr19:47701639 [GRCh38]
Chr19:48204896 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3676C>T (p.Pro1226Ser) single nucleotide variant Coffin-Siris syndrome 12 [RCV003225863] Chr19:47701408 [GRCh38]
Chr19:48204665 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1072G>C (p.Val358Leu) single nucleotide variant Inborn genetic diseases [RCV003213510] Chr19:47680242 [GRCh38]
Chr19:48183499 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.251C>G (p.Ser84Cys) single nucleotide variant Inborn genetic diseases [RCV003218684] Chr19:47679421 [GRCh38]
Chr19:48182678 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.769G>C (p.Val257Leu) single nucleotide variant not provided [RCV003324981] Chr19:47679939 [GRCh38]
Chr19:48183196 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2060C>G (p.Pro687Arg) single nucleotide variant Inborn genetic diseases [RCV003283813]|not provided [RCV003427731] Chr19:47681230 [GRCh38]
Chr19:48184487 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_001394372.1(BICRA):c.3328G>A (p.Ala1110Thr) single nucleotide variant not provided [RCV003321324] Chr19:47698713 [GRCh38]
Chr19:48201970 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3835T>G (p.Ser1279Ala) single nucleotide variant Inborn genetic diseases [RCV003310295] Chr19:47701567 [GRCh38]
Chr19:48204824 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1309C>T (p.Pro437Ser) single nucleotide variant Inborn genetic diseases [RCV003308861] Chr19:47680479 [GRCh38]
Chr19:48183736 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2918A>G (p.Gln973Arg) single nucleotide variant Inborn genetic diseases [RCV003308943] Chr19:47694922 [GRCh38]
Chr19:48198179 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2347G>A (p.Ala783Thr) single nucleotide variant Inborn genetic diseases [RCV003266125] Chr19:47694178 [GRCh38]
Chr19:48197435 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4050ACC[2] (p.Pro1355del) microsatellite not provided [RCV003322066] Chr19:47701780..47701782 [GRCh38]
Chr19:48205037..48205039 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.692G>C (p.Gly231Ala) single nucleotide variant not provided [RCV003318880] Chr19:47679862 [GRCh38]
Chr19:48183119 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4304T>G (p.Val1435Gly) single nucleotide variant not specified [RCV003324196] Chr19:47702036 [GRCh38]
Chr19:48205293 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4423C>T (p.Arg1475Cys) single nucleotide variant not provided [RCV003322151] Chr19:47702155 [GRCh38]
Chr19:48205412 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1 copy number loss Cone-rod dystrophy 2 [RCV003327689] Chr19:47257435..47886413 [GRCh38]
Chr19:19q13.32-13.33		 uncertain significance
NM_001394372.1(BICRA):c.2428G>A (p.Val810Met) single nucleotide variant Coffin-Siris syndrome 12 [RCV003326307] Chr19:47694259 [GRCh38]
Chr19:48197516 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2799A>C (p.Ala933=) single nucleotide variant not provided [RCV003327012] Chr19:47694630 [GRCh38]
Chr19:48197887 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.492C>T (p.Thr164=) single nucleotide variant not provided [RCV003327011] Chr19:47679662 [GRCh38]
Chr19:48182919 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.337A>G (p.Ile113Val) single nucleotide variant not provided [RCV003328895] Chr19:47679507 [GRCh38]
Chr19:48182764 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2063C>A (p.Thr688Lys) single nucleotide variant Inborn genetic diseases [RCV003342195] Chr19:47681233 [GRCh38]
Chr19:48184490 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2713G>A (p.Asp905Asn) single nucleotide variant Inborn genetic diseases [RCV003344286]|not provided [RCV003420667] Chr19:47694544 [GRCh38]
Chr19:48197801 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_001394372.1(BICRA):c.1010T>C (p.Val337Ala) single nucleotide variant Inborn genetic diseases [RCV003343189] Chr19:47680180 [GRCh38]
Chr19:48183437 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1906C>T (p.Pro636Ser) single nucleotide variant Inborn genetic diseases [RCV003361117] Chr19:47681076 [GRCh38]
Chr19:48184333 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.410C>T (p.Ala137Val) single nucleotide variant Inborn genetic diseases [RCV003381421] Chr19:47679580 [GRCh38]
Chr19:48182837 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4521C>A (p.Ser1507Arg) single nucleotide variant Inborn genetic diseases [RCV003372495] Chr19:47702253 [GRCh38]
Chr19:48205510 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2386C>G (p.Pro796Ala) single nucleotide variant Inborn genetic diseases [RCV003351029] Chr19:47694217 [GRCh38]
Chr19:48197474 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2063C>T (p.Thr688Met) single nucleotide variant Inborn genetic diseases [RCV003378318] Chr19:47681233 [GRCh38]
Chr19:48184490 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2216T>A (p.Val739Asp) single nucleotide variant Inborn genetic diseases [RCV003347513] Chr19:47682085 [GRCh38]
Chr19:48185342 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.42T>C (p.Cys14=) single nucleotide variant Inborn genetic diseases [RCV003356078] Chr19:47673720 [GRCh38]
Chr19:48176977 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2037G>C (p.Leu679=) single nucleotide variant not provided [RCV003457038] Chr19:47681207 [GRCh38]
Chr19:48184464 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.656A>G (p.Asn219Ser) single nucleotide variant BICRA-related condition [RCV003919063]|Inborn genetic diseases [RCV003356048] Chr19:47679826 [GRCh38]
Chr19:48183083 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_001394372.1(BICRA):c.2842A>G (p.Thr948Ala) single nucleotide variant Inborn genetic diseases [RCV003385898] Chr19:47694673 [GRCh38]
Chr19:48197930 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1198A>G (p.Met400Val) single nucleotide variant Inborn genetic diseases [RCV003386454] Chr19:47680368 [GRCh38]
Chr19:48183625 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4538A>C (p.Gln1513Pro) single nucleotide variant Inborn genetic diseases [RCV003366314] Chr19:47702270 [GRCh38]
Chr19:48205527 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.137A>G (p.Tyr46Cys) single nucleotide variant Inborn genetic diseases [RCV003366541] Chr19:47675903 [GRCh38]
Chr19:48179160 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2083T>G (p.Ser695Ala) single nucleotide variant Inborn genetic diseases [RCV003363708] Chr19:47681253 [GRCh38]
Chr19:48184510 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.361G>C (p.Glu121Gln) single nucleotide variant not provided [RCV003457037] Chr19:47679531 [GRCh38]
Chr19:48182788 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1632C>T (p.Ala544=) single nucleotide variant not provided [RCV003457287] Chr19:47680802 [GRCh38]
Chr19:48184059 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2587C>T (p.Arg863Cys) single nucleotide variant not provided [RCV003457288] Chr19:47694418 [GRCh38]
Chr19:48197675 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_001394372.1(BICRA):c.1952C>A (p.Pro651His) single nucleotide variant not provided [RCV003425284] Chr19:47681122 [GRCh38]
Chr19:48184379 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4315C>T (p.Leu1439=) single nucleotide variant not provided [RCV003425295] Chr19:47702047 [GRCh38]
Chr19:48205304 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1654C>T (p.Pro552Ser) single nucleotide variant BICRA-related condition [RCV003399966] Chr19:47680824 [GRCh38]
Chr19:48184081 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2351C>T (p.Pro784Leu) single nucleotide variant not provided [RCV003407051] Chr19:47694182 [GRCh38]
Chr19:48197439 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.1206G>T (p.Ala402=) single nucleotide variant not provided [RCV003425283] Chr19:47680376 [GRCh38]
Chr19:48183633 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.2618T>A (p.Leu873Gln) single nucleotide variant not provided [RCV003425289] Chr19:47694449 [GRCh38]
Chr19:48197706 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.1096C>G (p.Leu366Val) single nucleotide variant BICRA-related condition [RCV003393192] Chr19:47680266 [GRCh38]
Chr19:48183523 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2195_2206dup (p.Pro735_Ala736insAspProAlaPro) duplication not provided [RCV003407050] Chr19:47682061..47682062 [GRCh38]
Chr19:48185318..48185319 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.262G>A (p.Gly88Arg) single nucleotide variant BICRA-related condition [RCV003402209] Chr19:47679432 [GRCh38]
Chr19:48182689 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3056C>T (p.Pro1019Leu) single nucleotide variant not provided [RCV003425291] Chr19:47695060 [GRCh38]
Chr19:48198317 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.1321G>A (p.Gly441Arg) single nucleotide variant not provided [RCV003407047] Chr19:47680491 [GRCh38]
Chr19:48183748 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2810del (p.Pro937fs) deletion not provided [RCV003443730] Chr19:47694634 [GRCh38]
Chr19:48197891 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.610G>C (p.Gly204Arg) single nucleotide variant not provided [RCV003425281] Chr19:47679780 [GRCh38]
Chr19:48183037 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2107-7G>A single nucleotide variant not provided [RCV003425286] Chr19:47681969 [GRCh38]
Chr19:48185226 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.4002G>C (p.Pro1334=) single nucleotide variant not provided [RCV003407053] Chr19:47701734 [GRCh38]
Chr19:48204991 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.4005A>C (p.Pro1335=) single nucleotide variant not provided [RCV003407054] Chr19:47701737 [GRCh38]
Chr19:48204994 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.901C>T (p.Leu301Phe) single nucleotide variant not provided [RCV003415339] Chr19:47680071 [GRCh38]
Chr19:48183328 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.1725C>T (p.Ala575=) single nucleotide variant not provided [RCV003415340] Chr19:47680895 [GRCh38]
Chr19:48184152 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2666C>T (p.Ala889Val) single nucleotide variant not provided [RCV003415341] Chr19:47694497 [GRCh38]
Chr19:48197754 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2800G>A (p.Ala934Thr) single nucleotide variant not provided [RCV003415342] Chr19:47694631 [GRCh38]
Chr19:48197888 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3832G>T (p.Ala1278Ser) single nucleotide variant not provided [RCV003415343] Chr19:47701564 [GRCh38]
Chr19:48204821 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4050A>C (p.Pro1350=) single nucleotide variant not provided [RCV003415344] Chr19:47701782 [GRCh38]
Chr19:48205039 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.4153C>T (p.Leu1385=) single nucleotide variant not provided [RCV003415345] Chr19:47701885 [GRCh38]
Chr19:48205142 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1796C>T (p.Pro599Leu) single nucleotide variant BICRA-related condition [RCV003404702] Chr19:47680966 [GRCh38]
Chr19:48184223 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4267G>T (p.Glu1423Ter) single nucleotide variant BICRA-related condition [RCV003402502] Chr19:47701999 [GRCh38]
Chr19:48205256 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.4269G>C (p.Glu1423Asp) single nucleotide variant not provided [RCV003457039] Chr19:47702001 [GRCh38]
Chr19:48205258 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.3964G>A (p.Val1322Met) single nucleotide variant BICRA-related condition [RCV003397708] Chr19:47701696 [GRCh38]
Chr19:48204953 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_001394372.1(BICRA):c.1624C>T (p.Leu542Phe) single nucleotide variant BICRA-related condition [RCV003410639] Chr19:47680794 [GRCh38]
Chr19:48184051 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.993C>T (p.Leu331=) single nucleotide variant not provided [RCV003425282] Chr19:47680163 [GRCh38]
Chr19:48183420 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1959A>C (p.Pro653=) single nucleotide variant not provided [RCV003425285] Chr19:47681129 [GRCh38]
Chr19:48184386 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2615C>T (p.Pro872Leu) single nucleotide variant not provided [RCV003425288] Chr19:47694446 [GRCh38]
Chr19:48197703 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.2898G>A (p.Val966=) single nucleotide variant BICRA-related condition [RCV003938968]|not provided [RCV003425290] Chr19:47694902 [GRCh38]
Chr19:48198159 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.3325G>A (p.Asp1109Asn) single nucleotide variant BICRA-related condition [RCV003938969]|not provided [RCV003425292] Chr19:47698710 [GRCh38]
Chr19:48201967 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.4344G>A (p.Pro1448=) single nucleotide variant not provided [RCV003425296] Chr19:47702076 [GRCh38]
Chr19:48205333 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.4148C>T (p.Pro1383Leu) single nucleotide variant not provided [RCV003425294] Chr19:47701880 [GRCh38]
Chr19:48205137 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.4668G>A (p.Arg1556=) single nucleotide variant not provided [RCV003425297] Chr19:47702400 [GRCh38]
Chr19:48205657 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2181G>C (p.Pro727=) single nucleotide variant not provided [RCV003425287] Chr19:47682050 [GRCh38]
Chr19:48185307 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.4041A>G (p.Pro1347=) single nucleotide variant not provided [RCV003425293] Chr19:47701773 [GRCh38]
Chr19:48205030 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.78C>T (p.Ser26=) single nucleotide variant not provided [RCV003407045] Chr19:47673756 [GRCh38]
Chr19:48177013 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.915T>C (p.Ser305=) single nucleotide variant not provided [RCV003407046] Chr19:47680085 [GRCh38]
Chr19:48183342 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2393G>A (p.Arg798Gln) single nucleotide variant not provided [RCV003407052] Chr19:47694224 [GRCh38]
Chr19:48197481 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1476C>T (p.Asn492=) single nucleotide variant not provided [RCV003407048] Chr19:47680646 [GRCh38]
Chr19:48183903 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.2130C>T (p.Ser710=) single nucleotide variant not provided [RCV003407049] Chr19:47681999 [GRCh38]
Chr19:48185256 [GRCh37]
Chr19:19q13.33		 benign
NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter) single nucleotide variant Coffin-Siris syndrome 12 [RCV003493344] Chr19:47698685 [GRCh38]
Chr19:48201942 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.937G>C (p.Ala313Pro) single nucleotide variant Coffin-Siris syndrome 12 [RCV003492929] Chr19:47680107 [GRCh38]
Chr19:48183364 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.334A>G (p.Asn112Asp) single nucleotide variant Coffin-Siris syndrome 12 [RCV003492930] Chr19:47679504 [GRCh38]
Chr19:48182761 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1214_1215insT (p.Gln407fs) insertion Coffin-Siris syndrome 12 [RCV003596253] Chr19:47680384..47680385 [GRCh38]
Chr19:48183641..48183642 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001394372.1(BICRA):c.4100C>A (p.Pro1367Gln) single nucleotide variant BICRA-related condition [RCV003926771] Chr19:47701832 [GRCh38]
Chr19:48205089 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.271G>A (p.Gly91Ser) single nucleotide variant BICRA-related condition [RCV003926959] Chr19:47679441 [GRCh38]
Chr19:48182698 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1973C>T (p.Pro658Leu) single nucleotide variant BICRA-related condition [RCV003937005] Chr19:47681143 [GRCh38]
Chr19:48184400 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.4354G>A (p.Ala1452Thr) single nucleotide variant BICRA-related condition [RCV003949796] Chr19:47702086 [GRCh38]
Chr19:48205343 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.4400C>T (p.Pro1467Leu) single nucleotide variant not provided [RCV003884012] Chr19:47702132 [GRCh38]
Chr19:48205389 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.4606C>G (p.Pro1536Ala) single nucleotide variant not provided [RCV003887270] Chr19:47702338 [GRCh38]
Chr19:48205595 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.3941_3948dup (p.Gly1317fs) duplication Coffin-Siris syndrome 12 [RCV003984964] Chr19:47701671..47701672 [GRCh38]
Chr19:48204928..48204929 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001394372.1(BICRA):c.1767C>T (p.Pro589=) single nucleotide variant not provided [RCV003886160] Chr19:47680937 [GRCh38]
Chr19:48184194 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001394372.1(BICRA):c.1181C>A (p.Pro394Gln) single nucleotide variant BICRA-related condition [RCV003893913] Chr19:47680351 [GRCh38]
Chr19:48183608 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1293
Count of miRNA genes:724
Interacting mature miRNAs:837
Transcripts:ENST00000396720, ENST00000594866, ENST00000602258
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D19S1057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,146,010 - 48,146,199UniSTSGRCh37
Build 361952,837,822 - 52,838,011RGDNCBI36
Celera1944,951,704 - 44,951,893RGD
Cytogenetic Map19q13.3UniSTS
HuRef1944,573,258 - 44,573,447UniSTS
Stanford-G3 RH Map192419.0UniSTS
NCBI RH Map19528.0UniSTS
RH118578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,146,653 - 48,146,925UniSTSGRCh37
Build 361952,838,465 - 52,838,737RGDNCBI36
Celera1944,952,347 - 44,952,619RGD
Cytogenetic Map19q13.3UniSTS
HuRef1944,573,901 - 44,574,173UniSTS
TNG Radiation Hybrid Map1917910.0UniSTS
GLTSCR1__6813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,205,782 - 48,206,490UniSTSGRCh37
Build 361952,897,594 - 52,898,302RGDNCBI36
Celera1945,011,492 - 45,012,198RGD
HuRef1944,632,482 - 44,633,188UniSTS
D19S1160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,206,579 - 48,206,726UniSTSGRCh37
Build 361952,898,391 - 52,898,538RGDNCBI36
Celera1945,012,287 - 45,012,434RGD
HuRef1944,633,277 - 44,633,424UniSTS
RH48458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,206,260 - 48,206,402UniSTSGRCh37
Build 361952,898,072 - 52,898,214RGDNCBI36
Celera1945,011,968 - 45,012,110RGD
Cytogenetic Map19q13.3UniSTS
HuRef1944,632,958 - 44,633,100UniSTS
GeneMap99-GB4 RH Map19266.31UniSTS
GLTSCR1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,183,286 - 48,183,530UniSTSGRCh37
Celera1944,988,997 - 44,989,241UniSTS
HuRef1944,610,067 - 44,610,311UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1454 894 883 76 549 27 3040 917 1389 58 922 1254 55 576 1911 2
Low 977 2085 839 546 1384 437 1315 1276 2317 343 526 354 116 628 877 2
Below cutoff 1 5 1 11 2 17

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000396720   ⟹   ENSP00000379946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,608,196 - 47,703,277 (+)Ensembl
RefSeq Acc Id: ENST00000594866   ⟹   ENSP00000469738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,609,134 - 47,703,277 (+)Ensembl
RefSeq Acc Id: ENST00000602258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,699,965 - 47,703,276 (+)Ensembl
RefSeq Acc Id: ENST00000614245   ⟹   ENSP00000480219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,678,962 - 47,703,222 (+)Ensembl
RefSeq Acc Id: NM_001394372   ⟹   NP_001381301
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,609,134 - 47,703,277 (+)NCBI
T2T-CHM13v2.01950,439,957 - 50,534,101 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015711   ⟹   NP_056526
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,608,196 - 47,703,277 (+)NCBI
GRCh371948,111,453 - 48,206,534 (+)RGD
Build 361952,874,031 - 52,898,291 (+)NCBI Archive
Celera1944,917,158 - 45,012,242 (+)RGD
HuRef1944,539,001 - 44,633,232 (+)RGD
CHM1_11948,113,705 - 48,208,894 (+)NCBI
T2T-CHM13v2.01950,439,021 - 50,534,101 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_056526   ⟸   NM_015711
- UniProtKB: A8MW01 (UniProtKB/Swiss-Prot),   Q9NZM4 (UniProtKB/Swiss-Prot),   A0A087WWH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000469738   ⟸   ENST00000594866
RefSeq Acc Id: ENSP00000480219   ⟸   ENST00000614245
RefSeq Acc Id: ENSP00000379946   ⟸   ENST00000396720
RefSeq Acc Id: NP_001381301   ⟸   NM_001394372
- UniProtKB: Q9NZM4 (UniProtKB/Swiss-Prot),   A8MW01 (UniProtKB/Swiss-Prot),   A0A087WWH3 (UniProtKB/TrEMBL)
Protein Domains
GLTSCR protein conserved

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZM4-F1-model_v2 AlphaFold Q9NZM4 1-1560 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4332 AgrOrtholog
COSMIC BICRA COSMIC
Ensembl Genes ENSG00000063169 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000396720 ENTREZGENE
  ENST00000396720.7 UniProtKB/Swiss-Prot
  ENST00000594866 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000594866.3 UniProtKB/Swiss-Prot
  ENST00000614245 UniProtKB/TrEMBL
  ENST00000614245.2 UniProtKB/Swiss-Prot
GTEx ENSG00000063169 GTEx
HGNC ID HGNC:4332 ENTREZGENE
Human Proteome Map BICRA Human Proteome Map
InterPro GSCR1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29998 UniProtKB/Swiss-Prot
NCBI Gene 29998 ENTREZGENE
OMIM 605690 OMIM
PANTHER GLIOMA TUMOR SUPPRESSOR CANDIDATE REGION GENE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15572:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GLTSCR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28735 PharmGKB
UniProt A0A087WWH3 ENTREZGENE, UniProtKB/TrEMBL
  A8MW01 ENTREZGENE
  BICRA_HUMAN UniProtKB/Swiss-Prot
  M0QYC3_HUMAN UniProtKB/TrEMBL
  Q9NZM4 ENTREZGENE
UniProt Secondary A8MW01 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-04-25 BICRA  BRD4 interacting chromatin remodeling complex associated protein    BRD4 interacting chromatin remodelling complex associated protein  Symbol and/or name change 5135510 APPROVED
2017-03-28 BICRA  BRD4 interacting chromatin remodelling complex associated protein  GLTSCR1  glioma tumor suppressor candidate region gene 1  Symbol and/or name change 5135510 APPROVED