RAB23 (RAB23, member RAS oncogene family) - Rat Genome Database

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Gene: RAB23 (RAB23, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB23
Name: RAB23, member RAS oncogene family
RGD ID: 1315728
HGNC Page HGNC:14263
Description: Enables GTPase activity. Involved in several processes, including cellular defense response; negative regulation of protein import into nucleus; and organelle assembly. Located in several cellular components, including autophagosome; centrosome; and phagocytic vesicle. Implicated in Carpenter syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781H0695; HSPC137; MGC8900; RAB family small GTP binding protein RAB 23; ras-related protein Rab-23
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38657,186,992 - 57,222,307 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl657,186,992 - 57,222,307 (-)EnsemblGRCh38hg38GRCh38
GRCh37657,051,790 - 57,087,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36657,161,540 - 57,195,037 (-)NCBINCBI36Build 36hg18NCBI36
Build 34657,161,542 - 57,194,216NCBI
Celera658,716,680 - 58,750,177 (-)NCBICelera
Cytogenetic Map6p12.1-p11.2NCBI
HuRef656,885,847 - 56,921,168 (-)NCBIHuRef
CHM1_1657,052,116 - 57,087,451 (-)NCBICHM1_1
T2T-CHM13v2.0657,026,017 - 57,061,677 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function
GTP binding  (IEA)
GTPase activity  (IBA,IDA,IEA)
protein binding  (IPI)

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

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cornea morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal reproductive system morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Agenesis of permanent teeth  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the toes  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad thumb  (IAGP)
Camptodactyly  (IAGP)
Cerebral atrophy  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cloverleaf skull  (IAGP)
Complete duplication of proximal phalanx of the thumb  (IAGP)
Conductive hearing impairment  (IAGP)
Coronal craniosynostosis  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Depressed nasal bridge  (IAGP)
Deviation of finger  (IAGP)
Duplication of the proximal phalanx of the hallux  (IAGP)
Epicanthus  (IAGP)
External genital hypoplasia  (IAGP)
Finger syndactyly  (IAGP)
Flared iliac wing  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intellectual disability  (IAGP)
Joint contracture of the hand  (IAGP)
Kyphoscoliosis  (IAGP)
Lambdoidal craniosynostosis  (IAGP)
Large foramen magnum  (IAGP)
Lateral displacement of patellae  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Metatarsus adductus  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Obesity  (IAGP)
Omphalocele  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Oxycephaly  (IAGP)
Patent ductus arteriosus  (IAGP)
Persistence of primary teeth  (IAGP)
Polydactyly  (IAGP)
Polysplenia  (IAGP)
Postaxial hand polydactyly  (IAGP)
Preauricular pit  (IAGP)
Preaxial foot polydactyly  (IAGP)
Precocious puberty  (IAGP)
Pseudoepiphyses of the proximal phalanges of the hand  (IAGP)
Pulmonic stenosis  (IAGP)
Sacral dimple  (IAGP)
Sagittal craniosynostosis  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shallow acetabular fossae  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Spina bifida occulta  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Tetralogy of Fallot  (IAGP)
Toe syndactyly  (IAGP)
Transposition of the great arteries  (IAGP)
Turricephaly  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11042152   PMID:12477932   PMID:12878157   PMID:14574404   PMID:14612978   PMID:14617350   PMID:15489334   PMID:16344560   PMID:17373734   PMID:17503333   PMID:17646400   PMID:18485483  
PMID:18559507   PMID:20358613   PMID:21255211   PMID:21412941   PMID:21516116   PMID:21540310   PMID:21873635   PMID:21988832   PMID:22365972   PMID:22452336   PMID:22724020   PMID:23007279  
PMID:23376485   PMID:23599695   PMID:23948406   PMID:25489984   PMID:25867419   PMID:26186194   PMID:26238143   PMID:26638075   PMID:26648292   PMID:26715272   PMID:26897750   PMID:27659550  
PMID:28277196   PMID:28514442   PMID:29191386   PMID:29416296   PMID:29676528   PMID:29771408   PMID:30191377   PMID:30194290   PMID:30442762   PMID:30639242   PMID:31056421   PMID:31465935  
PMID:31550546   PMID:31635804   PMID:31871319   PMID:32856288   PMID:33961781   PMID:34079125   PMID:34278506   PMID:34432599   PMID:34597346   PMID:34748996   PMID:35271311   PMID:35337019  
PMID:35844135   PMID:36215168   PMID:37884351   PMID:38093594   PMID:38117590  


Genomics

Comparative Map Data
RAB23
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38657,186,992 - 57,222,307 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl657,186,992 - 57,222,307 (-)EnsemblGRCh38hg38GRCh38
GRCh37657,051,790 - 57,087,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36657,161,540 - 57,195,037 (-)NCBINCBI36Build 36hg18NCBI36
Build 34657,161,542 - 57,194,216NCBI
Celera658,716,680 - 58,750,177 (-)NCBICelera
Cytogenetic Map6p12.1-p11.2NCBI
HuRef656,885,847 - 56,921,168 (-)NCBIHuRef
CHM1_1657,052,116 - 57,087,451 (-)NCBICHM1_1
T2T-CHM13v2.0657,026,017 - 57,061,677 (-)NCBIT2T-CHM13v2.0
Rab23
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39133,758,991 - 33,781,642 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl133,758,968 - 33,781,645 (+)EnsemblGRCm39 Ensembl
GRCm38133,719,896 - 33,742,564 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl133,719,887 - 33,742,564 (+)EnsemblGRCm38mm10GRCm38
MGSCv37133,776,741 - 33,799,409 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36133,664,442 - 33,686,043 (+)NCBIMGSCv36mm8
Celera133,494,937 - 33,517,604 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map112.8NCBI
Rab23
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8943,440,047 - 43,463,327 (+)NCBIGRCr8
mRatBN7.2935,943,522 - 35,967,367 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl935,944,085 - 35,966,927 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx944,441,007 - 44,464,287 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0949,572,193 - 49,595,473 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0947,854,110 - 47,877,391 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0938,469,784 - 38,496,185 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl938,470,298 - 38,495,176 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0938,150,197 - 38,176,678 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4932,465,752 - 32,486,615 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1932,470,305 - 32,486,681 (+)NCBI
Celera933,737,526 - 33,758,237 (+)NCBICelera
Cytogenetic Map9q21NCBI
Rab23
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555022,950,562 - 2,980,634 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555022,947,170 - 2,980,634 (+)NCBIChiLan1.0ChiLan1.0
RAB23
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2571,658,156 - 71,698,899 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1667,538,584 - 67,574,922 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0656,744,948 - 56,780,187 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1658,375,559 - 58,411,104 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl658,375,559 - 58,411,107 (-)Ensemblpanpan1.1panPan2
RAB23
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11224,388,530 - 24,438,956 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1224,387,643 - 24,421,869 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1224,318,464 - 24,367,881 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01224,928,158 - 24,977,111 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1224,928,188 - 24,962,260 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11224,425,198 - 24,474,987 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01224,526,566 - 24,576,395 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01224,658,037 - 24,707,772 (+)NCBIUU_Cfam_GSD_1.0
Rab23
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494659,832,445 - 59,864,419 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364764,095,329 - 4,127,701 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364764,095,829 - 4,127,714 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB23
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl728,632,082 - 28,658,952 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1728,632,065 - 28,658,958 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2733,092,585 - 33,119,432 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAB23
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11714,383,064 - 14,418,144 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1714,383,155 - 14,414,698 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605820,502,672 - 20,512,527 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rab23
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475318,988,842 - 19,014,799 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RAB23
222 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016277.5(RAB23):c.408dup (p.Glu137Ter) duplication RAB23-related Carpenter syndrome [RCV000004854]|RAB23-related disorder [RCV003415655] Chr6:57194842..57194843 [GRCh38]
Chr6:57059640..57059641 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) duplication RAB23-related Carpenter syndrome [RCV000004855] Chr6:57210294..57210295 [GRCh38]
Chr6:57075092..57075093 [GRCh37]
Chr6:6p11.2
pathogenic
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) single nucleotide variant Carpenter syndrome [RCV002529883]|RAB23-related Carpenter syndrome [RCV000638833] Chr6:57210356 [GRCh38]
Chr6:57075154 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) single nucleotide variant Carpenter syndrome [RCV000791402]|Inborn genetic diseases [RCV000622686]|RAB23-related Carpenter syndrome [RCV000004853]|RAB23-related disorder [RCV003415654]|not provided [RCV000407501] Chr6:57194817 [GRCh38]
Chr6:57059615 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) single nucleotide variant RAB23-related Carpenter syndrome [RCV000290712] Chr6:57207630 [GRCh38]
Chr6:57072428 [GRCh37]
Chr6:57180387 [NCBI36]
Chr6:6p11.2
uncertain significance|not provided
GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1 copy number loss See cases [RCV000133851] Chr6:56312924..57306212 [GRCh38]
Chr6:56177722..57171010 [GRCh37]
Chr6:56285681..57278969 [NCBI36]
Chr6:6p12.1-11.2
uncertain significance
GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 copy number loss See cases [RCV000134922] Chr6:50971182..57432788 [GRCh38]
Chr6:50938895..57297586 [GRCh37]
Chr6:51046854..57405545 [NCBI36]
Chr6:6p12.3-11.2
pathogenic
GRCh38/hg38 6p12.1-11.2(chr6:56639682-57432788)x3 copy number gain See cases [RCV000135785] Chr6:56639682..57432788 [GRCh38]
Chr6:56504480..57297586 [GRCh37]
Chr6:56612439..57405545 [NCBI36]
Chr6:6p12.1-11.2
likely benign|uncertain significance
GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3 copy number gain See cases [RCV000137097] Chr6:53931543..68149750 [GRCh38]
Chr6:53796341..68859642 [GRCh37]
Chr6:53904300..68916363 [NCBI36]
Chr6:6p12.1-q12
pathogenic
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) single nucleotide variant Carpenter syndrome [RCV000917274]|RAB23-related Carpenter syndrome [RCV001159250]|not provided [RCV001567378]|not specified [RCV000193841] Chr6:57207651 [GRCh38]
Chr6:57072449 [GRCh37]
Chr6:6p11.2
likely benign|uncertain significance
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) single nucleotide variant Carpenter syndrome [RCV000279277]|RAB23-related Carpenter syndrome [RCV001530494]|not provided [RCV001764325]|not specified [RCV001805026] Chr6:57190556 [GRCh38]
Chr6:57055354 [GRCh37]
Chr6:6p12.1
benign|likely benign
NM_016277.5(RAB23):c.*416G>C single nucleotide variant Carpenter syndrome [RCV000273177] Chr6:57190045 [GRCh38]
Chr6:57054843 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.*145T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV000321279] Chr6:57190316 [GRCh38]
Chr6:57055114 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.398+9G>A single nucleotide variant Carpenter syndrome [RCV001451137]|RAB23-related Carpenter syndrome [RCV000285069]|RAB23-related disorder [RCV003922580] Chr6:57196441 [GRCh38]
Chr6:57061239 [GRCh37]
Chr6:6p12.1
likely benign|uncertain significance
NM_004282.4(BAG2):c.*5287C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV000300972] Chr6:57189477 [GRCh38]
Chr6:57054275 [GRCh37]
Chr6:6p12.1
likely benign|uncertain significance
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) single nucleotide variant Inborn genetic diseases [RCV003243112]|RAB23-related Carpenter syndrome [RCV000315595] Chr6:57190559 [GRCh38]
Chr6:57055357 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.714A>G (p.Ter238=) single nucleotide variant Carpenter syndrome [RCV003757175]|RAB23-related Carpenter syndrome [RCV000378298] Chr6:57190461 [GRCh38]
Chr6:57055259 [GRCh37]
Chr6:6p12.1
likely benign|uncertain significance
NM_016277.5(RAB23):c.242-31ATTG[6] microsatellite Carpenter syndrome [RCV000401730]|not provided [RCV001560987] Chr6:57196617..57196618 [GRCh38]
Chr6:57061415..57061416 [GRCh37]
Chr6:6p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004282.4(BAG2):c.*5460C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV000402922] Chr6:57189650 [GRCh38]
Chr6:57054448 [GRCh37]
Chr6:6p12.1
benign|likely benign
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) single nucleotide variant Carpenter syndrome [RCV000339958]|RAB23-related Carpenter syndrome [RCV001449940]|RAB23-related disorder [RCV003972506]|not provided [RCV000424519] Chr6:57196547 [GRCh38]
Chr6:57061345 [GRCh37]
Chr6:6p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) single nucleotide variant Carpenter syndrome [RCV001034654]|RAB23-related Carpenter syndrome [RCV000546008]|RAB23-related disorder [RCV003930036]|not provided [RCV000305521] Chr6:57210299 [GRCh38]
Chr6:57075097 [GRCh37]
Chr6:6p11.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) single nucleotide variant Carpenter syndrome [RCV000379503]|Inborn genetic diseases [RCV004022031]|RAB23-related Carpenter syndrome [RCV001095268]|RAB23-related disorder [RCV003409557] Chr6:57193880 [GRCh38]
Chr6:57058678 [GRCh37]
Chr6:6p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016277.5(RAB23):c.-49C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV000408386] Chr6:57210429 [GRCh38]
Chr6:57075227 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.*544G>A single nucleotide variant RAB23-related Carpenter syndrome [RCV000365391] Chr6:57189917 [GRCh38]
Chr6:57054715 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*5020C>T single nucleotide variant Carpenter syndrome [RCV000336204] Chr6:57189210 [GRCh38]
Chr6:57054008 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.-23C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV000345631]|not provided [RCV002266957] Chr6:57210403 [GRCh38]
Chr6:57075201 [GRCh37]
Chr6:6p11.2
benign|likely benign|uncertain significance
NM_004282.4(BAG2):c.*5549A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV000370984] Chr6:57189739 [GRCh38]
Chr6:57054537 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*4959T>C single nucleotide variant Carpenter syndrome [RCV000297591] Chr6:57189149 [GRCh38]
Chr6:57053947 [GRCh37]
Chr6:6p12.1
likely benign
NM_004282.4(BAG2):c.*5351G>C single nucleotide variant Carpenter syndrome [RCV000367592] Chr6:57189541 [GRCh38]
Chr6:57054339 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.*618A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV000269575] Chr6:57189843 [GRCh38]
Chr6:57054641 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*5084TGAT[3] microsatellite Carpenter syndrome [RCV000393022] Chr6:57189273..57189274 [GRCh38]
Chr6:57054071..57054072 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.481+10C>T single nucleotide variant Carpenter syndrome [RCV002069416]|RAB23-related Carpenter syndrome [RCV001277916]|RAB23-related disorder [RCV003953621] Chr6:57194760 [GRCh38]
Chr6:57059558 [GRCh37]
Chr6:6p12.1
likely benign|uncertain significance
NM_016277.5(RAB23):c.222T>C (p.Ile74=) single nucleotide variant Carpenter syndrome [RCV001409470]|RAB23-related Carpenter syndrome [RCV001277918] Chr6:57207647 [GRCh38]
Chr6:57072445 [GRCh37]
Chr6:6p11.2
likely benign|uncertain significance
NM_004282.4(BAG2):c.*5536A>C single nucleotide variant RAB23-related Carpenter syndrome [RCV000313985] Chr6:57189726 [GRCh38]
Chr6:57054524 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*4604_*4606dup duplication Carpenter syndrome [RCV000393034] Chr6:57188793..57188794 [GRCh38]
Chr6:57053591..57053592 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.*600AATT[1] microsatellite Carpenter syndrome [RCV000326936] Chr6:57189854..57189857 [GRCh38]
Chr6:57054652..57054655 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.481+5A>G single nucleotide variant Carpenter syndrome [RCV000531117]|not provided [RCV001540505] Chr6:57194765 [GRCh38]
Chr6:57059563 [GRCh37]
Chr6:6p12.1
likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) single nucleotide variant Carpenter syndrome [RCV000477736] Chr6:57194770 [GRCh38]
Chr6:57059568 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.529A>C (p.Ile177Leu) single nucleotide variant not specified [RCV000503273] Chr6:57193887 [GRCh38]
Chr6:57058685 [GRCh37]
Chr6:6p12.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p11.2(chr6:57074030-57326763)x1 copy number loss not provided [RCV000682674] Chr6:57074030..57326763 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) single nucleotide variant Carpenter syndrome [RCV002232842] Chr6:57196511 [GRCh38]
Chr6:57061309 [GRCh37]
Chr6:6p12.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p11.2(chr6:57034009-57185345)x3 copy number gain not provided [RCV000745746] Chr6:57034009..57185345 [GRCh37]
Chr6:6p11.2
benign
NM_016277.5(RAB23):c.155+113C>T single nucleotide variant not provided [RCV001668801] Chr6:57210113 [GRCh38]
Chr6:57074911 [GRCh37]
Chr6:6p11.2
benign
NM_016277.5(RAB23):c.552G>A (p.Thr184=) single nucleotide variant Carpenter syndrome [RCV000870484]|RAB23-related Carpenter syndrome [RCV001271834]|RAB23-related disorder [RCV003930382] Chr6:57193864 [GRCh38]
Chr6:57058662 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.48G>C (p.Gly16=) single nucleotide variant Carpenter syndrome [RCV000921603]|RAB23-related Carpenter syndrome [RCV001825859] Chr6:57210333 [GRCh38]
Chr6:57075131 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro) single nucleotide variant Carpenter syndrome [RCV001064634] Chr6:57196604 [GRCh38]
Chr6:57061402 [GRCh37]
Chr6:6p12.1
uncertain significance
NC_000006.12:g.(?_57186982)_(57222324_?)del deletion Carpenter syndrome [RCV001032642] Chr6:57051780..57087122 [GRCh37]
Chr6:6p11.2
pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) single nucleotide variant RAB23-related Carpenter syndrome [RCV000790522] Chr6:57194835 [GRCh38]
Chr6:57059633 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.255T>C (p.Cys85=) single nucleotide variant Carpenter syndrome [RCV001455537]|RAB23-related Carpenter syndrome [RCV001277917]|RAB23-related disorder [RCV003895498] Chr6:57196593 [GRCh38]
Chr6:57061391 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.387T>C (p.Ser129=) single nucleotide variant Carpenter syndrome [RCV001438183] Chr6:57196461 [GRCh38]
Chr6:57061259 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.4T>C (p.Leu2=) single nucleotide variant Carpenter syndrome [RCV001430160] Chr6:57210377 [GRCh38]
Chr6:57075175 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.5del (p.Leu2fs) deletion Carpenter syndrome [RCV000823068] Chr6:57210376 [GRCh38]
Chr6:57075174 [GRCh37]
Chr6:6p11.2
pathogenic
NM_004282.4(BAG2):c.*4565A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001164059] Chr6:57188755 [GRCh38]
Chr6:57053553 [GRCh37]
Chr6:6p12.1
likely benign
NM_004282.4(BAG2):c.*4735A>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001164060] Chr6:57188925 [GRCh38]
Chr6:57053723 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*4737A>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001164061] Chr6:57188927 [GRCh38]
Chr6:57053725 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.399-14A>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001164154] Chr6:57194866 [GRCh38]
Chr6:57059664 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.507C>T (p.Tyr169=) single nucleotide variant Carpenter syndrome [RCV000980796] Chr6:57193909 [GRCh38]
Chr6:57058707 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.15T>C (p.Asp5=) single nucleotide variant not provided [RCV000961737] Chr6:57210366 [GRCh38]
Chr6:57075164 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.534T>C (p.Ala178=) single nucleotide variant Carpenter syndrome [RCV000914219]|RAB23-related Carpenter syndrome [RCV001836010] Chr6:57193882 [GRCh38]
Chr6:57058680 [GRCh37]
Chr6:6p12.1
benign|likely benign
NM_004282.4(BAG2):c.*4263C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001162048] Chr6:57188453 [GRCh38]
Chr6:57053251 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3952A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001162044] Chr6:57188142 [GRCh38]
Chr6:57052940 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*4531G>A single nucleotide variant RAB23-related Carpenter syndrome [RCV001162050] Chr6:57188721 [GRCh38]
Chr6:57053519 [GRCh37]
Chr6:6p12.1
benign
NM_016277.5(RAB23):c.17del (p.Met6fs) deletion Carpenter syndrome [RCV001227329] Chr6:57210364 [GRCh38]
Chr6:57075162 [GRCh37]
Chr6:6p11.2
pathogenic
NM_004282.4(BAG2):c.*3082A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001159053] Chr6:57187272 [GRCh38]
Chr6:57052070 [GRCh37]
Chr6:6p12.1
likely benign
NM_004282.4(BAG2):c.*4777T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001164062] Chr6:57188967 [GRCh38]
Chr6:57053765 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.155+174del deletion not provided [RCV001617639] Chr6:57210052 [GRCh38]
Chr6:57074850 [GRCh37]
Chr6:6p11.2
benign
NM_016277.5(RAB23):c.481+68_481+70del microsatellite not provided [RCV001562476] Chr6:57194700..57194702 [GRCh38]
Chr6:57059498..57059500 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.398+1G>A single nucleotide variant RAB23-related Carpenter syndrome [RCV001580137] Chr6:57196449 [GRCh38]
Chr6:57061247 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.481+9C>T single nucleotide variant not provided [RCV000939092] Chr6:57194761 [GRCh38]
Chr6:57059559 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.54A>G (p.Gly18=) single nucleotide variant Carpenter syndrome [RCV000951544]|RAB23-related Carpenter syndrome [RCV001159254]|RAB23-related disorder [RCV003925944] Chr6:57210327 [GRCh38]
Chr6:57075125 [GRCh37]
Chr6:6p11.2
likely benign|uncertain significance
NM_016277.5(RAB23):c.575-8_575-5dup duplication Carpenter syndrome [RCV001405143] Chr6:57190604..57190605 [GRCh38]
Chr6:57055402..57055403 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.171T>C (p.Asp57=) single nucleotide variant Carpenter syndrome [RCV000886778]|RAB23-related Carpenter syndrome [RCV001830940]|RAB23-related disorder [RCV003968058] Chr6:57207698 [GRCh38]
Chr6:57072496 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.156-8T>C single nucleotide variant Carpenter syndrome [RCV001441750] Chr6:57207721 [GRCh38]
Chr6:57072519 [GRCh37]
Chr6:6p11.2
likely benign
NM_004282.4(BAG2):c.*3142C>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001159054] Chr6:57187332 [GRCh38]
Chr6:57052130 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*5219A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001159150] Chr6:57189409 [GRCh38]
Chr6:57054207 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*5421T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001159151] Chr6:57189611 [GRCh38]
Chr6:57054409 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3685C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001160395] Chr6:57187875 [GRCh38]
Chr6:57052673 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) single nucleotide variant Carpenter syndrome [RCV001237096] Chr6:57210239 [GRCh38]
Chr6:57075037 [GRCh37]
Chr6:6p11.2
pathogenic
NM_016277.5(RAB23):c.574+28G>A single nucleotide variant not provided [RCV001566408] Chr6:57193814 [GRCh38]
Chr6:57058612 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.156-293A>G single nucleotide variant not provided [RCV001686354] Chr6:57208006 [GRCh38]
Chr6:57072804 [GRCh37]
Chr6:6p11.2
benign
NM_004282.4(BAG2):c.*3846C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001160397] Chr6:57188036 [GRCh38]
Chr6:57052834 [GRCh37]
Chr6:6p12.1
benign
NM_004282.4(BAG2):c.*3930G>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001162043] Chr6:57188120 [GRCh38]
Chr6:57052918 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*4026A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001162046] Chr6:57188216 [GRCh38]
Chr6:57053014 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) single nucleotide variant RAB23-related Carpenter syndrome [RCV001159249] Chr6:57207646 [GRCh38]
Chr6:57072444 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.156-9T>C single nucleotide variant Carpenter syndrome [RCV001395559]|RAB23-related Carpenter syndrome [RCV001159251] Chr6:57207722 [GRCh38]
Chr6:57072520 [GRCh37]
Chr6:6p11.2
likely benign|uncertain significance
NM_016277.5(RAB23):c.93A>G (p.Lys31=) single nucleotide variant Carpenter syndrome [RCV001510380]|RAB23-related Carpenter syndrome [RCV001159253] Chr6:57210288 [GRCh38]
Chr6:57075086 [GRCh37]
Chr6:6p11.2
benign|uncertain significance
NM_004282.4(BAG2):c.*2941T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001159051] Chr6:57187131 [GRCh38]
Chr6:57051929 [GRCh37]
Chr6:6p12.1
benign
NM_004282.4(BAG2):c.*2973T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001159052] Chr6:57187163 [GRCh38]
Chr6:57051961 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*5140G>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001159149] Chr6:57189330 [GRCh38]
Chr6:57054128 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3238G>A single nucleotide variant RAB23-related Carpenter syndrome [RCV001160390] Chr6:57187428 [GRCh38]
Chr6:57052226 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3395A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001160391] Chr6:57187585 [GRCh38]
Chr6:57052383 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3502G>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001160392] Chr6:57187692 [GRCh38]
Chr6:57052490 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3786T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001160396] Chr6:57187976 [GRCh38]
Chr6:57052774 [GRCh37]
Chr6:6p12.1
benign
NM_004282.4(BAG2):c.*5476C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001160505] Chr6:57189666 [GRCh38]
Chr6:57054464 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.155+165dup duplication not provided [RCV001724611] Chr6:57210051..57210052 [GRCh38]
Chr6:57074849..57074850 [GRCh37]
Chr6:6p11.2
benign
NM_016277.5(RAB23):c.399-170A>C single nucleotide variant not provided [RCV001710385] Chr6:57195022 [GRCh38]
Chr6:57059820 [GRCh37]
Chr6:6p12.1
benign
NM_016277.5(RAB23):c.*81G>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001162140] Chr6:57190380 [GRCh38]
Chr6:57055178 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) single nucleotide variant RAB23-related Carpenter syndrome [RCV001162142] Chr6:57190511 [GRCh38]
Chr6:57055309 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3998A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001162045] Chr6:57188188 [GRCh38]
Chr6:57052986 [GRCh37]
Chr6:6p12.1
benign
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) single nucleotide variant RAB23-related Carpenter syndrome [RCV001164155] Chr6:57196459 [GRCh38]
Chr6:57061257 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) single nucleotide variant Carpenter syndrome [RCV001203498]|RAB23-related Carpenter syndrome [RCV001836135]|RAB23-related disorder [RCV003398927] Chr6:57210291 [GRCh38]
Chr6:57075089 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.123C>T (p.Thr41=) single nucleotide variant Carpenter syndrome [RCV001439461]|RAB23-related Carpenter syndrome [RCV001159252]|RAB23-related disorder [RCV003938527] Chr6:57210258 [GRCh38]
Chr6:57075056 [GRCh37]
Chr6:6p11.2
likely benign|uncertain significance
NM_004282.4(BAG2):c.*3518C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001160393] Chr6:57187708 [GRCh38]
Chr6:57052506 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*3590C>T single nucleotide variant RAB23-related Carpenter syndrome [RCV001160394] Chr6:57187780 [GRCh38]
Chr6:57052578 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*5594A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001160506] Chr6:57189784 [GRCh38]
Chr6:57054582 [GRCh37]
Chr6:6p12.1
likely benign
NM_004282.4(BAG2):c.*4204T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001162047] Chr6:57188394 [GRCh38]
Chr6:57053192 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_004282.4(BAG2):c.*4454T>C single nucleotide variant RAB23-related Carpenter syndrome [RCV001162049] Chr6:57188644 [GRCh38]
Chr6:57053442 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.*117A>G single nucleotide variant RAB23-related Carpenter syndrome [RCV001162139] Chr6:57190344 [GRCh38]
Chr6:57055142 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) single nucleotide variant Carpenter syndrome [RCV002559548]|RAB23-related Carpenter syndrome [RCV001162141]|RAB23-related disorder [RCV003413965] Chr6:57190505 [GRCh38]
Chr6:57055303 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.482-66T>A single nucleotide variant not provided [RCV001581357] Chr6:57194000 [GRCh38]
Chr6:57058798 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.482-8T>G single nucleotide variant Carpenter syndrome [RCV001391919] Chr6:57193942 [GRCh38]
Chr6:57058740 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.155+8C>T single nucleotide variant Carpenter syndrome [RCV001414744] Chr6:57210218 [GRCh38]
Chr6:57075016 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.351A>G (p.Val117=) single nucleotide variant Carpenter syndrome [RCV001395424] Chr6:57196497 [GRCh38]
Chr6:57061295 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.82del (p.Arg28fs) deletion Carpenter syndrome [RCV001382455] Chr6:57210299 [GRCh38]
Chr6:57075097 [GRCh37]
Chr6:6p11.2
pathogenic
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) single nucleotide variant Carpenter syndrome [RCV002547648]|Inborn genetic diseases [RCV002547647]|RAB23-related Carpenter syndrome [RCV002504577]|RAB23-related disorder [RCV003416258]|not provided [RCV001356824] Chr6:57196502 [GRCh38]
Chr6:57061300 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) single nucleotide variant Carpenter syndrome [RCV001363619]|RAB23-related Carpenter syndrome [RCV001836364]|See cases [RCV002287498] Chr6:57190463 [GRCh38]
Chr6:57055261 [GRCh37]
Chr6:6p12.1
likely pathogenic|uncertain significance
NM_016277.5(RAB23):c.594T>G (p.Gly198=) single nucleotide variant Carpenter syndrome [RCV001421260] Chr6:57190581 [GRCh38]
Chr6:57055379 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.261C>T (p.Leu87=) single nucleotide variant Carpenter syndrome [RCV001413724] Chr6:57196587 [GRCh38]
Chr6:57061385 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) single nucleotide variant Carpenter syndrome [RCV001421126]|RAB23-related Carpenter syndrome [RCV001826228]|RAB23-related disorder [RCV003405654] Chr6:57193865 [GRCh38]
Chr6:57058663 [GRCh37]
Chr6:6p12.1
likely benign|uncertain significance
NM_016277.5(RAB23):c.574+8C>T single nucleotide variant Carpenter syndrome [RCV001455654] Chr6:57193834 [GRCh38]
Chr6:57058632 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.132T>G (p.Val44=) single nucleotide variant Carpenter syndrome [RCV001402968] Chr6:57210249 [GRCh38]
Chr6:57075047 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.327C>T (p.Ala109=) single nucleotide variant Carpenter syndrome [RCV001485206]|RAB23-related disorder [RCV003900678] Chr6:57196521 [GRCh38]
Chr6:57061319 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.642C>T (p.Val214=) single nucleotide variant Carpenter syndrome [RCV001497760] Chr6:57190533 [GRCh38]
Chr6:57055331 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.399-6G>A single nucleotide variant Carpenter syndrome [RCV001403867] Chr6:57194858 [GRCh38]
Chr6:57059656 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.606C>T (p.Ser202=) single nucleotide variant Carpenter syndrome [RCV001501304] Chr6:57190569 [GRCh38]
Chr6:57055367 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.699C>T (p.Ser233=) single nucleotide variant Carpenter syndrome [RCV001501308] Chr6:57190476 [GRCh38]
Chr6:57055274 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.603C>T (p.His201=) single nucleotide variant Carpenter syndrome [RCV001446123] Chr6:57190572 [GRCh38]
Chr6:57055370 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.675G>A (p.Lys225=) single nucleotide variant Carpenter syndrome [RCV001435856] Chr6:57190500 [GRCh38]
Chr6:57055298 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.114C>T (p.Tyr38=) single nucleotide variant Carpenter syndrome [RCV001407558] Chr6:57210267 [GRCh38]
Chr6:57075065 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.575-7T>A single nucleotide variant Carpenter syndrome [RCV001449323] Chr6:57190607 [GRCh38]
Chr6:57055405 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.574+10T>C single nucleotide variant Carpenter syndrome [RCV001410421] Chr6:57193832 [GRCh38]
Chr6:57058630 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.51T>C (p.Asn17=) single nucleotide variant Carpenter syndrome [RCV001408179]|RAB23-related Carpenter syndrome [RCV001831442]|RAB23-related disorder [RCV003908590] Chr6:57210330 [GRCh38]
Chr6:57075128 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) single nucleotide variant Carpenter syndrome [RCV001386671] Chr6:57210236 [GRCh38]
Chr6:57075034 [GRCh37]
Chr6:6p11.2
pathogenic|likely pathogenic
NM_016277.5(RAB23):c.627C>T (p.Leu209=) single nucleotide variant Carpenter syndrome [RCV001411042] Chr6:57190548 [GRCh38]
Chr6:57055346 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.555T>C (p.His185=) single nucleotide variant Carpenter syndrome [RCV001435458] Chr6:57193861 [GRCh38]
Chr6:57058659 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.117G>A (p.Lys39=) single nucleotide variant Carpenter syndrome [RCV001465183] Chr6:57210264 [GRCh38]
Chr6:57075062 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.398+10C>T single nucleotide variant Carpenter syndrome [RCV001480550]|RAB23-related disorder [RCV003938859] Chr6:57196440 [GRCh38]
Chr6:57061238 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.559del (p.Ser187fs) deletion RAB23-related Carpenter syndrome [RCV001580770] Chr6:57193857 [GRCh38]
Chr6:57058655 [GRCh37]
Chr6:6p12.1
likely pathogenic
NM_016277.5(RAB23):c.184T>C (p.Leu62=) single nucleotide variant Carpenter syndrome [RCV001465050]|RAB23-related disorder [RCV003980385] Chr6:57207685 [GRCh38]
Chr6:57072483 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter) single nucleotide variant Carpenter syndrome [RCV001383516] Chr6:57194830 [GRCh38]
Chr6:57059628 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.234C>T (p.Tyr78=) single nucleotide variant Carpenter syndrome [RCV001466121] Chr6:57207635 [GRCh38]
Chr6:57072433 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.333G>A (p.Val111=) single nucleotide variant Carpenter syndrome [RCV001438288] Chr6:57196515 [GRCh38]
Chr6:57061313 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.261C>G (p.Leu87=) single nucleotide variant Carpenter syndrome [RCV001440971] Chr6:57196587 [GRCh38]
Chr6:57061385 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.24C>T (p.Val8=) single nucleotide variant Carpenter syndrome [RCV001435037]|not provided [RCV002264319] Chr6:57210357 [GRCh38]
Chr6:57075155 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.57A>G (p.Ala19=) single nucleotide variant Carpenter syndrome [RCV001426579] Chr6:57210324 [GRCh38]
Chr6:57075122 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.285A>G (p.Glu95=) single nucleotide variant Carpenter syndrome [RCV001426704] Chr6:57196563 [GRCh38]
Chr6:57061361 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.574+7A>G single nucleotide variant Carpenter syndrome [RCV003108842] Chr6:57193835 [GRCh38]
Chr6:57058633 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG indel Carpenter syndrome [RCV001971319] Chr6:57196273..57196490 [GRCh38]
Chr6:57061071..57061288 [GRCh37]
Chr6:6p12.1
likely pathogenic
NM_016277.5(RAB23):c.156-1G>C single nucleotide variant Carpenter syndrome [RCV002041723] Chr6:57207714 [GRCh38]
Chr6:57072512 [GRCh37]
Chr6:6p11.2
likely pathogenic
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter) single nucleotide variant Carpenter syndrome [RCV001944873] Chr6:57193890 [GRCh38]
Chr6:57058688 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe) single nucleotide variant Carpenter syndrome [RCV001887812] Chr6:57190585 [GRCh38]
Chr6:57055383 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.482-1_486del deletion Carpenter syndrome [RCV002010246] Chr6:57193930..57193935 [GRCh38]
Chr6:57058728..57058733 [GRCh37]
Chr6:6p12.1
likely pathogenic
NM_016277.5(RAB23):c.390T>C (p.Cys130=) single nucleotide variant Carpenter syndrome [RCV001955566] Chr6:57196458 [GRCh38]
Chr6:57061256 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.105A>G (p.Thr35=) single nucleotide variant Carpenter syndrome [RCV002112158] Chr6:57210276 [GRCh38]
Chr6:57075074 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.549A>G (p.Leu183=) single nucleotide variant Carpenter syndrome [RCV002085171] Chr6:57193867 [GRCh38]
Chr6:57058665 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.435A>G (p.Leu145=) single nucleotide variant Carpenter syndrome [RCV002130426] Chr6:57194816 [GRCh38]
Chr6:57059614 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.242-31ATTG[4] microsatellite Carpenter syndrome [RCV002129042] Chr6:57196618..57196621 [GRCh38]
Chr6:57061416..57061419 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.481+7T>A single nucleotide variant Carpenter syndrome [RCV002074619] Chr6:57194763 [GRCh38]
Chr6:57059561 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.186A>G (p.Leu62=) single nucleotide variant Carpenter syndrome [RCV002072560] Chr6:57207683 [GRCh38]
Chr6:57072481 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.582T>C (p.Phe194=) single nucleotide variant Carpenter syndrome [RCV002189800] Chr6:57190593 [GRCh38]
Chr6:57055391 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.575-170C>G single nucleotide variant not provided [RCV002244325] Chr6:57190770 [GRCh38]
Chr6:57055568 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.155+6dup duplication Carpenter syndrome [RCV002088271] Chr6:57210219..57210220 [GRCh38]
Chr6:57075017..57075018 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.693T>C (p.Phe231=) single nucleotide variant Carpenter syndrome [RCV002196932] Chr6:57190482 [GRCh38]
Chr6:57055280 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.481+8A>C single nucleotide variant Carpenter syndrome [RCV002080515] Chr6:57194762 [GRCh38]
Chr6:57059560 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.482-7A>G single nucleotide variant Carpenter syndrome [RCV002109053] Chr6:57193941 [GRCh38]
Chr6:57058739 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.429A>G (p.Leu143=) single nucleotide variant Carpenter syndrome [RCV002140061] Chr6:57194822 [GRCh38]
Chr6:57059620 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.242-6T>C single nucleotide variant Carpenter syndrome [RCV002156029] Chr6:57196612 [GRCh38]
Chr6:57061410 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.482-13C>G single nucleotide variant Carpenter syndrome [RCV002179253] Chr6:57193947 [GRCh38]
Chr6:57058745 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.398+9G>T single nucleotide variant Carpenter syndrome [RCV002176961] Chr6:57196441 [GRCh38]
Chr6:57061239 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.241+10A>G single nucleotide variant Carpenter syndrome [RCV002216601] Chr6:57207618 [GRCh38]
Chr6:57072416 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.482-9T>G single nucleotide variant Carpenter syndrome [RCV002098136]|RAB23-related disorder [RCV003903328] Chr6:57193943 [GRCh38]
Chr6:57058741 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.576T>G (p.Gly192=) single nucleotide variant Carpenter syndrome [RCV002203956] Chr6:57190599 [GRCh38]
Chr6:57055397 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.547C>T (p.Leu183=) single nucleotide variant Carpenter syndrome [RCV002160306] Chr6:57193869 [GRCh38]
Chr6:57058667 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.510T>C (p.Leu170=) single nucleotide variant Carpenter syndrome [RCV002220558] Chr6:57193906 [GRCh38]
Chr6:57058704 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.426G>A (p.Arg142=) single nucleotide variant Carpenter syndrome [RCV002155855] Chr6:57194825 [GRCh38]
Chr6:57059623 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.552G>C (p.Thr184=) single nucleotide variant Carpenter syndrome [RCV002162184]|RAB23-related disorder [RCV003893113] Chr6:57193864 [GRCh38]
Chr6:57058662 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.60T>G (p.Val20=) single nucleotide variant Carpenter syndrome [RCV002184025] Chr6:57210321 [GRCh38]
Chr6:57075119 [GRCh37]
Chr6:6p11.2
likely benign
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12
likely pathogenic
NM_016277.5(RAB23):c.399-9G>T single nucleotide variant Carpenter syndrome [RCV002178679] Chr6:57194861 [GRCh38]
Chr6:57059659 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.1A>C (p.Met1Leu) single nucleotide variant not specified [RCV002282956] Chr6:57210380 [GRCh38]
Chr6:57075178 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.83G>A (p.Arg28Gln) single nucleotide variant not specified [RCV002302600] Chr6:57210298 [GRCh38]
Chr6:57075096 [GRCh37]
Chr6:6p11.2
uncertain significance
GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2 copy number loss Orofacial cleft [RCV002481089] Chr6:55755662..55874865 [GRCh38]
Chr6:6p12.1-11.2
uncertain significance
NM_016277.5(RAB23):c.481+17G>A single nucleotide variant Carpenter syndrome [RCV002616494] Chr6:57194753 [GRCh38]
Chr6:57059551 [GRCh37]
Chr6:6p12.1
benign
NM_016277.5(RAB23):c.481+4A>C single nucleotide variant Carpenter syndrome [RCV002904881]|Inborn genetic diseases [RCV002904880] Chr6:57194766 [GRCh38]
Chr6:57059564 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.33G>A (p.Lys11=) single nucleotide variant Carpenter syndrome [RCV002863681] Chr6:57210348 [GRCh38]
Chr6:57075146 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.131T>C (p.Val44Ala) single nucleotide variant Inborn genetic diseases [RCV002879471] Chr6:57210250 [GRCh38]
Chr6:57075048 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.139T>C (p.Leu47=) single nucleotide variant Carpenter syndrome [RCV002881030] Chr6:57210242 [GRCh38]
Chr6:57075040 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.273C>T (p.Thr91=) single nucleotide variant Carpenter syndrome [RCV003033265] Chr6:57196575 [GRCh38]
Chr6:57061373 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.108A>G (p.Lys36=) single nucleotide variant Carpenter syndrome [RCV002913953] Chr6:57210273 [GRCh38]
Chr6:57075071 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.481+1G>A single nucleotide variant Carpenter syndrome [RCV003039548] Chr6:57194769 [GRCh38]
Chr6:57059567 [GRCh37]
Chr6:6p12.1
likely pathogenic
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle) deletion Carpenter syndrome [RCV002760353] Chr6:57196526..57196531 [GRCh38]
Chr6:57061324..57061329 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.399-15dup duplication Carpenter syndrome [RCV003037977] Chr6:57194866..57194867 [GRCh38]
Chr6:57059664..57059665 [GRCh37]
Chr6:6p12.1
benign
NM_016277.5(RAB23):c.21A>G (p.Glu7=) single nucleotide variant Carpenter syndrome [RCV003038859] Chr6:57210360 [GRCh38]
Chr6:57075158 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.705C>A (p.Ser235Arg) single nucleotide variant Inborn genetic diseases [RCV002707440] Chr6:57190470 [GRCh38]
Chr6:57055268 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.376C>T (p.Leu126=) single nucleotide variant Carpenter syndrome [RCV003036533] Chr6:57196472 [GRCh38]
Chr6:57061270 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.323T>C (p.Val108Ala) single nucleotide variant Inborn genetic diseases [RCV002761817] Chr6:57196525 [GRCh38]
Chr6:57061323 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser) single nucleotide variant Carpenter syndrome [RCV003005419] Chr6:57190568 [GRCh38]
Chr6:57055366 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.399-7T>C single nucleotide variant Carpenter syndrome [RCV003056695] Chr6:57194859 [GRCh38]
Chr6:57059657 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.412G>A (p.Ala138Thr) single nucleotide variant Inborn genetic diseases [RCV002698416] Chr6:57194839 [GRCh38]
Chr6:57059637 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.575-5T>A single nucleotide variant Carpenter syndrome [RCV002829402] Chr6:57190605 [GRCh38]
Chr6:57055403 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.453A>C (p.Ser151=) single nucleotide variant Carpenter syndrome [RCV002875827] Chr6:57194798 [GRCh38]
Chr6:57059596 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.156-9_156-8del deletion Carpenter syndrome [RCV003044129] Chr6:57207721..57207722 [GRCh38]
Chr6:57072519..57072520 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.611A>G (p.Gln204Arg) single nucleotide variant Inborn genetic diseases [RCV002648568]|RAB23-related disorder [RCV003420402] Chr6:57190564 [GRCh38]
Chr6:57055362 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.90C>T (p.Cys30=) single nucleotide variant Carpenter syndrome [RCV002961943] Chr6:57210291 [GRCh38]
Chr6:57075089 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.224C>G (p.Thr75Arg) single nucleotide variant Inborn genetic diseases [RCV002835994] Chr6:57207645 [GRCh38]
Chr6:57072443 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.522dup (p.Gln175fs) duplication Carpenter syndrome [RCV003029900] Chr6:57193893..57193894 [GRCh38]
Chr6:57058691..57058692 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.426del (p.Arg142fs) deletion Carpenter syndrome [RCV002856938] Chr6:57194825 [GRCh38]
Chr6:57059623 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.279T>C (p.Asp93=) single nucleotide variant Carpenter syndrome [RCV003060275] Chr6:57196569 [GRCh38]
Chr6:57061367 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.14A>T (p.Asp5Val) single nucleotide variant Carpenter syndrome [RCV002653163] Chr6:57210367 [GRCh38]
Chr6:57075165 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.425G>C (p.Arg142Thr) single nucleotide variant Inborn genetic diseases [RCV003208071] Chr6:57194826 [GRCh38]
Chr6:57059624 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.-66+5021dup duplication RAB23-related Carpenter syndrome [RCV003135197] Chr6:57216704..57216705 [GRCh38]
Chr6:57081502..57081503 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.86A>G (p.Tyr29Cys) single nucleotide variant Inborn genetic diseases [RCV003386097] Chr6:57210295 [GRCh38]
Chr6:57075093 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.365A>G (p.Lys122Arg) single nucleotide variant Inborn genetic diseases [RCV003369867] Chr6:57196483 [GRCh38]
Chr6:57061281 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.395A>C (p.Lys132Thr) single nucleotide variant RAB23-related disorder [RCV003406088] Chr6:57196453 [GRCh38]
Chr6:57061251 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.546A>C (p.Glu182Asp) single nucleotide variant RAB23-related disorder [RCV003400478] Chr6:57193870 [GRCh38]
Chr6:57058668 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.262G>A (p.Val88Met) single nucleotide variant RAB23-related disorder [RCV003427868] Chr6:57196586 [GRCh38]
Chr6:57061384 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.17T>C (p.Met6Thr) single nucleotide variant RAB23-related disorder [RCV003402496] Chr6:57210364 [GRCh38]
Chr6:57075162 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.174C>T (p.Val58=) single nucleotide variant not provided [RCV003436623] Chr6:57207695 [GRCh38]
Chr6:57072493 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.17T>G (p.Met6Arg) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV003389440] Chr6:57210364 [GRCh38]
Chr6:57075162 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.481+16del deletion Carpenter syndrome [RCV003592130] Chr6:57194754 [GRCh38]
Chr6:57059552 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.273C>G (p.Thr91=) single nucleotide variant Carpenter syndrome [RCV003592470] Chr6:57196575 [GRCh38]
Chr6:57061373 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.27C>T (p.Ala9=) single nucleotide variant Carpenter syndrome [RCV003592236] Chr6:57210354 [GRCh38]
Chr6:57075152 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.321A>C (p.Val107=) single nucleotide variant Carpenter syndrome [RCV003591483] Chr6:57196527 [GRCh38]
Chr6:57061325 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.126T>C (p.Ile42=) single nucleotide variant Carpenter syndrome [RCV003592172] Chr6:57210255 [GRCh38]
Chr6:57075053 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.398+18G>A single nucleotide variant Carpenter syndrome [RCV003592197] Chr6:57196432 [GRCh38]
Chr6:57061230 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.177A>G (p.Arg59=) single nucleotide variant Carpenter syndrome [RCV003591359] Chr6:57207692 [GRCh38]
Chr6:57072490 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.48G>A (p.Gly16=) single nucleotide variant Carpenter syndrome [RCV003591563] Chr6:57210333 [GRCh38]
Chr6:57075131 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.48G>T (p.Gly16=) single nucleotide variant Carpenter syndrome [RCV003592578] Chr6:57210333 [GRCh38]
Chr6:57075131 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.481+18del deletion Carpenter syndrome [RCV003592069] Chr6:57194752 [GRCh38]
Chr6:57059550 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.467del (p.Leu156fs) deletion Carpenter syndrome [RCV003493349] Chr6:57194784 [GRCh38]
Chr6:57059582 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.155+11G>A single nucleotide variant Carpenter syndrome [RCV003756817] Chr6:57210215 [GRCh38]
Chr6:57075013 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.482-20G>A single nucleotide variant Carpenter syndrome [RCV003838420] Chr6:57193954 [GRCh38]
Chr6:57058752 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.57A>C (p.Ala19=) single nucleotide variant Carpenter syndrome [RCV003593277] Chr6:57210324 [GRCh38]
Chr6:57075122 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.207G>A (p.Glu69=) single nucleotide variant Carpenter syndrome [RCV003757530] Chr6:57207662 [GRCh38]
Chr6:57072460 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.156-20_156-17del microsatellite Carpenter syndrome [RCV003758012] Chr6:57207730..57207733 [GRCh38]
Chr6:57072528..57072531 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.12A>G (p.Glu4=) single nucleotide variant Carpenter syndrome [RCV003757662] Chr6:57210369 [GRCh38]
Chr6:57075167 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA indel Carpenter syndrome [RCV003757484] Chr6:57207041..57207695 [GRCh38]
Chr6:57071839..57072493 [GRCh37]
Chr6:6p11.2
likely pathogenic
NM_016277.5(RAB23):c.242-7C>T single nucleotide variant Carpenter syndrome [RCV003757629] Chr6:57196613 [GRCh38]
Chr6:57061411 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.574+20T>G single nucleotide variant Carpenter syndrome [RCV003757824] Chr6:57193822 [GRCh38]
Chr6:57058620 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.552G>T (p.Thr184=) single nucleotide variant Carpenter syndrome [RCV003757390] Chr6:57193864 [GRCh38]
Chr6:57058662 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.575-15C>T single nucleotide variant Carpenter syndrome [RCV003591248] Chr6:57190615 [GRCh38]
Chr6:57055413 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.165T>C (p.Asp55=) single nucleotide variant Carpenter syndrome [RCV003757070] Chr6:57207704 [GRCh38]
Chr6:57072502 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.242-17_242-16insATTC insertion Carpenter syndrome [RCV003591187] Chr6:57196622..57196623 [GRCh38]
Chr6:57061420..57061421 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.482-20del deletion Carpenter syndrome [RCV003844741] Chr6:57193954 [GRCh38]
Chr6:57058752 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter) single nucleotide variant Carpenter syndrome [RCV003591191] Chr6:57207631 [GRCh38]
Chr6:57072429 [GRCh37]
Chr6:6p11.2
pathogenic
NM_016277.5(RAB23):c.156-14A>G single nucleotide variant Carpenter syndrome [RCV003757404] Chr6:57207727 [GRCh38]
Chr6:57072525 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.399-15T>A single nucleotide variant Carpenter syndrome [RCV003757045] Chr6:57194867 [GRCh38]
Chr6:57059665 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.525A>G (p.Gln175=) single nucleotide variant Carpenter syndrome [RCV003591338] Chr6:57193891 [GRCh38]
Chr6:57058689 [GRCh37]
Chr6:6p12.1
likely benign
GRCh37/hg19 6p11.2(chr6:57012713-57283544)x1 copy number loss not specified [RCV003986630] Chr6:57012713..57283544 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.495G>A (p.Leu165=) single nucleotide variant Carpenter syndrome [RCV003757022] Chr6:57193921 [GRCh38]
Chr6:57058719 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.482-10T>C single nucleotide variant Carpenter syndrome [RCV003757779] Chr6:57193944 [GRCh38]
Chr6:57058742 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.313_316del (p.Glu105fs) microsatellite Carpenter syndrome [RCV003867053] Chr6:57196532..57196535 [GRCh38]
Chr6:57061330..57061333 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.482-14T>G single nucleotide variant Carpenter syndrome [RCV003823912] Chr6:57193948 [GRCh38]
Chr6:57058746 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.481+19A>G single nucleotide variant Carpenter syndrome [RCV003757315] Chr6:57194751 [GRCh38]
Chr6:57059549 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.156-8T>G single nucleotide variant Carpenter syndrome [RCV003757642] Chr6:57207721 [GRCh38]
Chr6:57072519 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.155+17T>C single nucleotide variant Carpenter syndrome [RCV003757956] Chr6:57210209 [GRCh38]
Chr6:57075007 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.242-20G>C single nucleotide variant Carpenter syndrome [RCV003757055] Chr6:57196626 [GRCh38]
Chr6:57061424 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.241+16T>G single nucleotide variant Carpenter syndrome [RCV003757132] Chr6:57207612 [GRCh38]
Chr6:57072410 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.482-12T>G single nucleotide variant Carpenter syndrome [RCV003757077] Chr6:57193946 [GRCh38]
Chr6:57058744 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.575-12C>A single nucleotide variant Carpenter syndrome [RCV003591138] Chr6:57190612 [GRCh38]
Chr6:57055410 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.155+11G>C single nucleotide variant Carpenter syndrome [RCV003757297] Chr6:57210215 [GRCh38]
Chr6:57075013 [GRCh37]
Chr6:6p11.2
likely benign
NM_016277.5(RAB23):c.312A>G (p.Arg104=) single nucleotide variant Carpenter syndrome [RCV003591324] Chr6:57196536 [GRCh38]
Chr6:57061334 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.357G>A (p.Val119=) single nucleotide variant Carpenter syndrome [RCV003757558] Chr6:57196491 [GRCh38]
Chr6:57061289 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.430_431del (p.Lys144fs) deletion Carpenter syndrome [RCV003757564] Chr6:57194820..57194821 [GRCh38]
Chr6:57059618..57059619 [GRCh37]
Chr6:6p12.1
pathogenic
NM_016277.5(RAB23):c.474G>A (p.Val158=) single nucleotide variant Carpenter syndrome [RCV003757671] Chr6:57194777 [GRCh38]
Chr6:57059575 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.706A>G (p.Ile236Val) single nucleotide variant Inborn genetic diseases [RCV004443046] Chr6:57190469 [GRCh38]
Chr6:57055267 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.252T>G (p.Ala84=) single nucleotide variant RAB23-related disorder [RCV003981703] Chr6:57196596 [GRCh38]
Chr6:57061394 [GRCh37]
Chr6:6p12.1
likely benign
NM_016277.5(RAB23):c.386C>A (p.Ser129Tyr) single nucleotide variant Inborn genetic diseases [RCV004443045] Chr6:57196462 [GRCh38]
Chr6:57061260 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_016277.5(RAB23):c.236A>G (p.Tyr79Cys) single nucleotide variant RAB23-related disorder [RCV003951818] Chr6:57207633 [GRCh38]
Chr6:57072431 [GRCh37]
Chr6:6p11.2
uncertain significance
NM_016277.5(RAB23):c.385T>G (p.Ser129Ala) single nucleotide variant Inborn genetic diseases [RCV004443044] Chr6:57196463 [GRCh38]
Chr6:57061261 [GRCh37]
Chr6:6p12.1
uncertain significance
NC_000006.11:g.(?_57061071)_(57061424_?)del deletion Carpenter syndrome [RCV004578631] Chr6:57061071..57061424 [GRCh37] pathogenic
NC_000006.11:g.(?_57075004)_(57075178_?)del deletion Carpenter syndrome [RCV004578630] Chr6:57075004..57075178 [GRCh37] pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:758
Count of miRNA genes:428
Interacting mature miRNAs:474
Transcripts:ENST00000317483, ENST00000468148
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
STS-W60718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37657,054,385 - 57,054,582UniSTSGRCh37
Build 36657,162,344 - 57,162,541RGDNCBI36
Celera658,717,484 - 58,717,681RGD
Cytogenetic Map6p11UniSTS
HuRef656,888,442 - 56,888,639UniSTS
GeneMap99-GB4 RH Map6224.5UniSTS
NCBI RH Map6722.7UniSTS
RH103125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37657,053,678 - 57,053,840UniSTSGRCh37
Build 36657,161,637 - 57,161,799RGDNCBI36
Celera658,716,777 - 58,716,939RGD
Cytogenetic Map6p11UniSTS
HuRef656,887,735 - 56,887,897UniSTS
GeneMap99-GB4 RH Map6226.29UniSTS
RAB23_476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37657,054,527 - 57,055,272UniSTSGRCh37
Build 36657,162,486 - 57,163,231RGDNCBI36
Celera658,717,626 - 58,718,371RGD
HuRef656,888,584 - 56,889,329UniSTS
D6S1786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37657,053,607 - 57,053,715UniSTSGRCh37
Build 36657,161,566 - 57,161,674RGDNCBI36
Celera658,716,706 - 58,716,814RGD
Cytogenetic Map6p11UniSTS
HuRef656,887,664 - 56,887,772UniSTS


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
High
Medium 1768 1446 707 32 122 29 2003 943 862 115 883 1236 14 606 1303 3
Low 664 802 961 539 1085 384 2350 1225 2838 291 564 372 158 1 598 1483 1
Below cutoff 5 689 55 50 690 51 2 27 19 10 10 2 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB025427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB034244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU280196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY585189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA021294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA391757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA997359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000317483   ⟹   ENSP00000320413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl657,188,783 - 57,221,407 (-)Ensembl
RefSeq Acc Id: ENST00000468148   ⟹   ENSP00000417610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl657,186,992 - 57,222,307 (-)Ensembl
RefSeq Acc Id: NM_001278666   ⟹   NP_001265595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,186,992 - 57,222,307 (-)NCBI
HuRef656,885,847 - 56,921,168 (-)NCBI
CHM1_1657,052,116 - 57,087,451 (-)NCBI
T2T-CHM13v2.0657,026,017 - 57,061,333 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278667   ⟹   NP_001265596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,186,992 - 57,222,307 (-)NCBI
HuRef656,885,847 - 56,921,168 (-)NCBI
CHM1_1657,052,116 - 57,087,451 (-)NCBI
T2T-CHM13v2.0657,026,017 - 57,061,333 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278668   ⟹   NP_001265597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,186,992 - 57,221,462 (-)NCBI
GRCh37657,051,790 - 57,087,112 (-)NCBI
HuRef656,885,847 - 56,921,168 (-)NCBI
CHM1_1657,052,116 - 57,086,598 (-)NCBI
T2T-CHM13v2.0657,026,017 - 57,060,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016277   ⟹   NP_057361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,186,992 - 57,222,307 (-)NCBI
GRCh37657,051,790 - 57,087,112 (-)NCBI
Build 36657,161,540 - 57,195,037 (-)NCBI Archive
HuRef656,885,847 - 56,921,168 (-)NCBI
CHM1_1657,052,116 - 57,087,451 (-)NCBI
T2T-CHM13v2.0657,026,017 - 57,061,333 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183227   ⟹   NP_899050
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,186,992 - 57,221,462 (-)NCBI
GRCh37657,051,790 - 57,087,112 (-)NCBI
Build 36657,161,540 - 57,194,216 (-)NCBI Archive
HuRef656,885,847 - 56,921,168 (-)NCBI
CHM1_1657,052,116 - 57,086,598 (-)NCBI
T2T-CHM13v2.0657,026,017 - 57,060,488 (-)NCBI
Sequence:
RefSeq Acc Id: NR_103822
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,186,992 - 57,222,307 (-)NCBI
HuRef656,885,847 - 56,921,168 (-)NCBI
CHM1_1657,052,116 - 57,087,451 (-)NCBI
T2T-CHM13v2.0657,026,017 - 57,061,333 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054355597   ⟹   XP_054211572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0657,026,017 - 57,061,677 (-)NCBI
RefSeq Acc Id: NP_057361   ⟸   NM_016277
- UniProtKB: Q8NI06 (UniProtKB/Swiss-Prot),   Q68DJ6 (UniProtKB/Swiss-Prot),   B2R9I5 (UniProtKB/Swiss-Prot),   Q9P023 (UniProtKB/Swiss-Prot),   Q9ULC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_899050   ⟸   NM_183227
- UniProtKB: Q8NI06 (UniProtKB/Swiss-Prot),   Q68DJ6 (UniProtKB/Swiss-Prot),   B2R9I5 (UniProtKB/Swiss-Prot),   Q9P023 (UniProtKB/Swiss-Prot),   Q9ULC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265595   ⟸   NM_001278666
- UniProtKB: Q8NI06 (UniProtKB/Swiss-Prot),   Q68DJ6 (UniProtKB/Swiss-Prot),   B2R9I5 (UniProtKB/Swiss-Prot),   Q9P023 (UniProtKB/Swiss-Prot),   Q9ULC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265596   ⟸   NM_001278667
- UniProtKB: Q8NI06 (UniProtKB/Swiss-Prot),   Q68DJ6 (UniProtKB/Swiss-Prot),   B2R9I5 (UniProtKB/Swiss-Prot),   Q9P023 (UniProtKB/Swiss-Prot),   Q9ULC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265597   ⟸   NM_001278668
- UniProtKB: Q8NI06 (UniProtKB/Swiss-Prot),   Q68DJ6 (UniProtKB/Swiss-Prot),   B2R9I5 (UniProtKB/Swiss-Prot),   Q9P023 (UniProtKB/Swiss-Prot),   Q9ULC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000417610   ⟸   ENST00000468148
RefSeq Acc Id: ENSP00000320413   ⟸   ENST00000317483
RefSeq Acc Id: XP_054211572   ⟸   XM_054355597
- Peptide Label: isoform X1
- UniProtKB: Q9P023 (UniProtKB/Swiss-Prot),   Q9ULC3 (UniProtKB/Swiss-Prot),   Q8NI06 (UniProtKB/Swiss-Prot),   Q68DJ6 (UniProtKB/Swiss-Prot),   B2R9I5 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULC3-F1-model_v2 AlphaFold Q9ULC3 1-237 view protein structure

Promoters
RGD ID:6804609
Promoter ID:HG_KWN:53943
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016277,   NM_183227,   OTTHUMT00000041043,   UC010KAC.1,   UC010KAD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36657,194,396 - 57,195,132 (-)MPROMDB
RGD ID:7208409
Promoter ID:EPDNEW_H9950
Type:single initiation site
Name:RAB23_3
Description:RAB23, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9951  EPDNEW_H9952  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,213,995 - 57,214,055EPDNEW
RGD ID:7208411
Promoter ID:EPDNEW_H9951
Type:initiation region
Name:RAB23_2
Description:RAB23, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9950  EPDNEW_H9952  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,221,457 - 57,221,517EPDNEW
RGD ID:7208413
Promoter ID:EPDNEW_H9952
Type:initiation region
Name:RAB23_1
Description:RAB23, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9950  EPDNEW_H9951  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38657,222,251 - 57,222,311EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14263 AgrOrtholog
COSMIC RAB23 COSMIC
Ensembl Genes ENSG00000112210 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000317483 ENTREZGENE
  ENST00000317483.4 UniProtKB/Swiss-Prot
  ENST00000468148 ENTREZGENE
  ENST00000468148.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000112210 GTEx
HGNC ID HGNC:14263 ENTREZGENE
Human Proteome Map RAB23 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot
  Rab23 UniProtKB/Swiss-Prot
  Small_GTP-bd_dom UniProtKB/Swiss-Prot
  Small_GTPase UniProtKB/Swiss-Prot
KEGG Report hsa:51715 UniProtKB/Swiss-Prot
NCBI Gene 51715 ENTREZGENE
OMIM 606144 OMIM
PANTHER RABX5 UniProtKB/Swiss-Prot
  RAS-RELATED PROTEIN RAB UniProtKB/Swiss-Prot
Pfam Ras UniProtKB/Swiss-Prot
PharmGKB PA34113 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot
PROSITE RAB UniProtKB/Swiss-Prot
SMART RAB UniProtKB/Swiss-Prot
  RAN UniProtKB/Swiss-Prot
  RAS UniProtKB/Swiss-Prot
  RHO UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt B2R9I5 ENTREZGENE
  Q68DJ6 ENTREZGENE
  Q8NI06 ENTREZGENE
  Q9P023 ENTREZGENE
  Q9ULC3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R9I5 UniProtKB/Swiss-Prot
  Q68DJ6 UniProtKB/Swiss-Prot
  Q8NI06 UniProtKB/Swiss-Prot
  Q9P023 UniProtKB/Swiss-Prot