TAFA5 (TAFA chemokine like family member 5) - Rat Genome Database
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Gene: TAFA5 (TAFA chemokine like family member 5) Homo sapiens
Analyze
Symbol: TAFA5
Name: TAFA chemokine like family member 5
RGD ID: 1342880
HGNC Page HGNC
Description: Predicted to have cytokine activity. Predicted to be involved in negative regulation of vascular associated smooth muscle cell proliferation; negative regulation of vascular wound healing; and signal transduction. Predicted to localize to several cellular components, including extracellular space; integral component of membrane; and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: chemokine-like protein TAFA-5; FAM19A5; family with sequence similarity 19 (chemokine (C-C motif)-like), member A5; family with sequence similarity 19 member A5, C-C motif chemokine like; QLLK5208; TAFA protein 5; TAFA-5; UNQ5208
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
GRCh38.p13 Ensembl2248,489,553 - 48,850,912 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2248,489,460 - 48,850,912 (+)EnsemblGRCh38hg38GRCh38
GRCh382248,489,553 - 48,751,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372248,885,365 - 49,147,744 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362247,428,841 - 47,533,750 (+)NCBINCBI36hg18NCBI36
Build 342247,363,699 - 47,468,605NCBI
Celera2232,799,018 - 33,062,366 (+)NCBI
Cytogenetic Map22q13.32NCBI
HuRef2231,967,780 - 32,090,939 (+)NCBIHuRef
CHM1_12248,843,998 - 49,106,142 (+)NCBICHM1_1
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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9110174   PMID:10591208   PMID:12477932   PMID:12975309   PMID:15028294   PMID:15489334   PMID:18275939   PMID:20379614   PMID:22158540   PMID:24322204  
PMID:28298427   PMID:28611215   PMID:31280604   PMID:31702029  


Genomics

Comparative Map Data
TAFA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2248,489,553 - 48,850,912 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2248,489,460 - 48,850,912 (+)EnsemblGRCh38hg38GRCh38
GRCh382248,489,553 - 48,751,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372248,885,365 - 49,147,744 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362247,428,841 - 47,533,750 (+)NCBINCBI36hg18NCBI36
Build 342247,363,699 - 47,468,605NCBI
Celera2232,799,018 - 33,062,366 (+)NCBI
Cytogenetic Map22q13.32NCBI
HuRef2231,967,780 - 32,090,939 (+)NCBIHuRef
CHM1_12248,843,998 - 49,106,142 (+)NCBICHM1_1
Tafa5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391587,428,405 - 87,643,565 (+)NCBIGRCm39mm39
GRCm39 Ensembl1587,428,500 - 87,643,565 (+)Ensembl
GRCm381587,544,219 - 87,759,364 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1587,544,299 - 87,759,364 (+)EnsemblGRCm38mm10GRCm38
MGSCv371587,455,660 - 87,589,794 (+)NCBIGRCm37mm9NCBIm37
MGSCv361587,452,996 - 87,587,130 (+)NCBImm8
Celera1589,759,876 - 89,888,462 (+)NCBICelera
Cytogenetic Map15E3NCBI
Tafa5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27118,613,731 - 118,835,016 (+)NCBI
Rnor_6.0 Ensembl7128,500,011 - 128,728,928 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07128,500,009 - 128,728,834 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07128,196,289 - 128,420,388 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47125,835,416 - 126,056,345 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7115,110,201 - 115,330,283 (+)NCBICelera
Cytogenetic Map7q34NCBI
Tafa5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541332,094,438 - 32,200,329 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541332,094,438 - 32,200,276 (+)NCBIChiLan1.0ChiLan1.0
TAFA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12247,793,039 - 47,976,118 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02228,675,007 - 28,943,154 (+)NCBIMhudiblu_PPA_v0panPan3
TAFA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11018,093,455 - 18,186,776 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1018,083,899 - 18,236,736 (-)NCBI
ROS_Cfam_1.01018,830,722 - 18,985,497 (-)NCBI
UMICH_Zoey_3.11018,550,683 - 18,703,644 (-)NCBI
UNSW_CanFamBas_1.01018,860,924 - 19,016,176 (-)NCBI
UU_Cfam_GSD_1.01019,005,700 - 19,160,385 (-)NCBI
Tafa5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049451,781,171 - 1,906,215 (-)NCBI
SpeTri2.0NW_0049366291,781,169 - 1,906,215 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAFA5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl51,400,588 - 1,569,846 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.151,413,030 - 1,569,951 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TAFA5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11930,985,913 - 31,247,087 (+)NCBI
ChlSab1.1 Ensembl1931,073,084 - 31,247,161 (+)Ensembl
Tafa5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247521,649,875 - 1,754,591 (-)NCBI

Position Markers
D22S1161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372248,985,706 - 48,985,942UniSTSGRCh37
Build 362247,372,269 - 47,372,505RGDNCBI36
Celera2232,899,738 - 32,899,976RGD
Cytogenetic Map22q13.32UniSTS
Cytogenetic Map22q13.31UniSTS
HuRef2231,927,730 - 31,927,968UniSTS
Marshfield Genetic Map2259.5UniSTS
Marshfield Genetic Map2259.5RGD
Genethon Genetic Map2255.9UniSTS
RH103084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372249,147,450 - 49,147,651UniSTSGRCh37
Build 362247,533,456 - 47,533,657RGDNCBI36
Celera2233,062,072 - 33,062,273RGD
Cytogenetic Map22q13.32UniSTS
HuRef2232,090,645 - 32,090,846UniSTS
GeneMap99-GB4 RH Map22166.88UniSTS
G62544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372249,106,748 - 49,107,032UniSTSGRCh37
Build 362247,492,754 - 47,493,038RGDNCBI36
Celera2233,021,209 - 33,021,493RGD
Cytogenetic Map22q13.32UniSTS
HuRef2232,049,481 - 32,049,765UniSTS
TNG Radiation Hybrid Map2212703.0UniSTS
G63572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372248,991,398 - 48,991,740UniSTSGRCh37
Build 362247,377,961 - 47,378,303RGDNCBI36
Celera2232,905,432 - 32,905,774RGD
Cytogenetic Map22q13.32UniSTS
HuRef2231,933,424 - 31,933,766UniSTS
TNG Radiation Hybrid Map2212742.0UniSTS
stD22S34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372248,948,956 - 48,949,110UniSTSGRCh37
Build 362247,327,620 - 47,327,774RGDNCBI36
Celera2232,862,685 - 32,862,839RGD
Cytogenetic Map22q13.32UniSTS
HuRef2231,894,321 - 31,894,475UniSTS
AL022479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372248,960,088 - 48,960,184UniSTSGRCh37
Build 362247,338,752 - 47,338,848RGDNCBI36
Celera2232,873,814 - 32,873,910RGD
Cytogenetic Map22q13.32UniSTS
HuRef2231,905,450 - 31,905,546UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2392
Count of miRNA genes:827
Interacting mature miRNAs:966
Transcripts:ENST00000336769, ENST00000358295, ENST00000402357, ENST00000406880, ENST00000473898
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.


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 414 522 108 37 38 31 969 127 3423 30 373 90 7 39 695
Low 1840 1319 1194 409 282 253 2742 1309 259 293 966 1238 158 1 949 1607
Below cutoff 88 962 382 149 909 150 594 736 18 59 39 179 2 213 483 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001082967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF131851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL954745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY325118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU739734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX927063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR391954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR450365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB481230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB541899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336769   ⟹   ENSP00000336812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2248,489,592 - 48,850,912 (+)Ensembl
RefSeq Acc Id: ENST00000358295   ⟹   ENSP00000351043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2248,576,306 - 48,751,932 (+)Ensembl
RefSeq Acc Id: ENST00000402357   ⟹   ENSP00000383933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2248,489,553 - 48,751,932 (+)Ensembl
RefSeq Acc Id: ENST00000406880   ⟹   ENSP00000385603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2248,693,247 - 48,750,408 (+)Ensembl
RefSeq Acc Id: ENST00000473898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2248,576,453 - 48,750,488 (+)Ensembl
RefSeq Acc Id: NM_001082967   ⟹   NP_001076436
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382248,489,553 - 48,751,932 (+)NCBI
GRCh372248,885,288 - 49,147,744 (+)RGD
Build 362247,428,845 - 47,533,750 (+)NCBI Archive
Celera2232,799,018 - 33,062,366 (+)RGD
HuRef2231,967,780 - 32,090,942 (+)NCBI
CHM1_12248,843,998 - 49,106,142 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015381   ⟹   NP_056196
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382248,576,340 - 48,751,932 (+)NCBI
GRCh372248,885,288 - 49,147,744 (+)RGD
Build 362247,428,841 - 47,533,750 (+)NCBI Archive
Celera2232,799,018 - 33,062,366 (+)RGD
HuRef2231,967,780 - 32,090,942 (+)NCBI
CHM1_12248,930,840 - 49,106,142 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001076436   ⟸   NM_001082967
- Peptide Label: isoform 1 precursor
- UniProtKB: Q7Z5A7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_056196   ⟸   NM_015381
- Peptide Label: isoform 2 precursor
- UniProtKB: Q7Z5A7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000336812   ⟸   ENST00000336769
RefSeq Acc Id: ENSP00000383933   ⟸   ENST00000402357
RefSeq Acc Id: ENSP00000385603   ⟸   ENST00000406880
RefSeq Acc Id: ENSP00000351043   ⟸   ENST00000358295

Promoters
RGD ID:13604478
Promoter ID:EPDNEW_H28423
Type:initiation region
Name:FAM19A5_1
Description:family with sequence similarity 19 member A5, C-C motif chemokinelike
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382248,489,553 - 48,489,613EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_001082967.2(FAM19A5):c.112+65046A>G single nucleotide variant Lung cancer [RCV000102102] Chr22:48554750 [GRCh38]
Chr22:48950562 [GRCh37]
Chr22:22q13.32
uncertain significance
NM_001082967.2(FAM19A5):c.112+78151C>G single nucleotide variant Lung cancer [RCV000102103] Chr22:48567855 [GRCh38]
Chr22:48963667 [GRCh37]
Chr22:22q13.32
uncertain significance
NM_001082967.2(FAM19A5):c.199C>T (p.Arg67Cys) single nucleotide variant Malignant melanoma [RCV000073005] Chr22:48646683 [GRCh38]
Chr22:49042495 [GRCh37]
Chr22:47428931 [NCBI36]
Chr22:22q13.32
not provided
NM_001082967.2(FAM19A5):c.113-34368A>G single nucleotide variant Lung cancer [RCV000102104] Chr22:48612229 [GRCh38]
Chr22:49008041 [GRCh37]
Chr22:22q13.32
uncertain significance
NM_001082967.2(FAM19A5):c.390+15481C>G single nucleotide variant Lung cancer [RCV000102105] Chr22:48723325 [GRCh38]
Chr22:49119137 [GRCh37]
Chr22:22q13.32
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32(chr22:48500344-49037170)x3 copy number gain See cases [RCV000139925] Chr22:48500344..49037170 [GRCh38]
Chr22:48896156..49432982 [GRCh37]
Chr22:47274820..47818986 [NCBI36]
Chr22:22q13.32
uncertain significance
GRCh38/hg38 22q13.32(chr22:48500344-48654672)x3 copy number gain See cases [RCV000139837] Chr22:48500344..48654672 [GRCh38]
Chr22:48896156..49050484 [GRCh37]
Chr22:47274820..47436920 [NCBI36]
Chr22:22q13.32
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48271979-49315577)x3 copy number gain See cases [RCV000143316] Chr22:48271979..49315577 [GRCh38]
Chr22:48667791..49711502 [GRCh37]
Chr22:47046455..48097506 [NCBI36]
Chr22:22q13.32-13.33
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 copy number loss See cases [RCV000239941] Chr22:46316673..50357320 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.32(chr22:48515897-49033283)x3 copy number gain See cases [RCV000446868] Chr22:48515897..49033283 [GRCh37]
Chr22:22q13.32
likely benign
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.32(chr22:47465162-49147231)x4 copy number gain See cases [RCV000447589] Chr22:47465162..49147231 [GRCh37]
Chr22:22q13.31-13.32
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48794195-49876931)x3 copy number gain See cases [RCV000511033] Chr22:48794195..49876931 [GRCh37]
Chr22:22q13.32-13.33
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss 22q13.3 deletion syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48480251-49752332)x3 copy number gain not provided [RCV000684493] Chr22:48480251..49752332 [GRCh37]
Chr22:22q13.32-13.33
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32(chr22:48890183-48895339)x1 copy number loss not provided [RCV000742067] Chr22:48890183..48895339 [GRCh37]
Chr22:22q13.32
benign
GRCh37/hg19 22q13.32(chr22:48893382-48894014)x1 copy number loss not provided [RCV000742068] Chr22:48893382..48894014 [GRCh37]
Chr22:22q13.32
benign
GRCh37/hg19 22q13.32(chr22:49063774-49064434)x0 copy number loss not provided [RCV000742069] Chr22:49063774..49064434 [GRCh37]
Chr22:22q13.32
benign
GRCh37/hg19 22q13.32(chr22:49079153-49101208)x1 copy number loss not provided [RCV000742070] Chr22:49079153..49101208 [GRCh37]
Chr22:22q13.32
benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001082967.3(TAFA5):c.180G>A (p.Thr60=) single nucleotide variant not provided [RCV000959698] Chr22:48646664 [GRCh38]
Chr22:49042476 [GRCh37]
Chr22:22q13.32
benign
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
GRCh37/hg19 22q13.31-13.32(chr22:48371613-49328017)x4 copy number gain not provided [RCV000846977] Chr22:48371613..49328017 [GRCh37]
Chr22:22q13.31-13.32
uncertain significance
GRCh37/hg19 22q13.31-13.32(chr22:48371415-49305438)x4 copy number gain not provided [RCV000847146] Chr22:48371415..49305438 [GRCh37]
Chr22:22q13.31-13.32
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32(chr22:48949440-49220201)x3 copy number gain not provided [RCV001007193] Chr22:48949440..49220201 [GRCh37]
Chr22:22q13.32
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21592 AgrOrtholog
COSMIC TAFA5 COSMIC
Ensembl Genes ENSG00000219438 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000336812 UniProtKB/TrEMBL
  ENSP00000351043 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383933 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385603 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000336769 UniProtKB/TrEMBL
  ENST00000358295 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406880 UniProtKB/Swiss-Prot
GTEx ENSG00000219438 GTEx
HGNC ID HGNC:21592 ENTREZGENE
Human Proteome Map TAFA5 Human Proteome Map
InterPro Chemokine-like_FAM19A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM19A5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25817 UniProtKB/Swiss-Prot
NCBI Gene 25817 ENTREZGENE
OMIM 617499 OMIM
PANTHER PTHR31878 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TAFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134887312 PharmGKB
UniProt B1B1J6_HUMAN UniProtKB/TrEMBL
  Q7Z5A7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NII9 UniProtKB/Swiss-Prot
  B0QZ13 UniProtKB/Swiss-Prot
  B0QZ14 UniProtKB/Swiss-Prot
  B0QZ15 UniProtKB/Swiss-Prot
  O95902 UniProtKB/Swiss-Prot
  Q5H9C4 UniProtKB/Swiss-Prot
  Q6UWC9 UniProtKB/Swiss-Prot
  Q8IXR8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 TAFA5  TAFA chemokine like family member 5  FAM19A5  family with sequence similarity 19 member A5, C-C motif chemokine like  Symbol and/or name change 5135510 APPROVED
2016-05-31 FAM19A5  family with sequence similarity 19 member A5, C-C motif chemokine like  FAM19A5  family with sequence similarity 19 (chemokine (C-C motif)-like), member A5  Symbol and/or name change 5135510 APPROVED