DNAAF4-CCPG1 (DNAAF4-CCPG1 readthrough (NMD candidate)) - Rat Genome Database

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Gene: DNAAF4-CCPG1 (DNAAF4-CCPG1 readthrough (NMD candidate)) Homo sapiens
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Symbol: DNAAF4-CCPG1
Name: DNAAF4-CCPG1 readthrough (NMD candidate)
RGD ID: 5491056
HGNC Page HGNC:43019
Description: This locus represents naturally occurring read-through transcription between the neighboring dyslexia susceptibility 1 candidate 1 (DYX1C1) and cell cycle progression 1 (CCPG1) genes on chromosome 15. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011]
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: DYX1C1-CCPG1; DYX1C1-CCPG1 readthrough (NMD candidate); FLJ60574
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381555,355,223 - 55,498,584 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1555,355,248 - 55,498,360 (-)EnsemblGRCh38hg38GRCh38
GRCh371555,647,421 - 55,790,782 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q21.3NCBI
HuRef1532,473,220 - 32,615,109 (-)NCBIHuRef
CHM1_11555,765,913 - 55,909,221 (-)NCBICHM1_1
T2T-CHM13v2.01553,158,411 - 53,301,803 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:20967262  


Genomics

Variants

.
Variants in DNAAF4-CCPG1
261 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_130810.4(DNAAF4):c.1216G>C (p.Ala406Pro) single nucleotide variant not provided [RCV001349023] Chr15:55430717 [GRCh38]
Chr15:55722915 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.56T>A (p.Leu19Gln) single nucleotide variant not provided [RCV001377564] Chr15:55498274 [GRCh38]
Chr15:55790472 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_130810.4(DNAAF4):c.180G>C (p.Glu60Asp) single nucleotide variant Inborn genetic diseases [RCV004023713]|not provided [RCV001858052] Chr15:55497803 [GRCh38]
Chr15:55790001 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.406-10A>G single nucleotide variant not provided [RCV000552558] Chr15:55467171 [GRCh38]
Chr15:55759369 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1229G>T (p.Arg410Leu) single nucleotide variant not provided [RCV001348648] Chr15:55430704 [GRCh38]
Chr15:55722902 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) single nucleotide variant Dyslexia, susceptibility to, 1 [RCV002504978]|Primary ciliary dyskinesia 25 [RCV000059318]|not provided [RCV000726789] Chr15:55439557 [GRCh38]
Chr15:55731755 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_130810.4(DNAAF4):c.325G>T (p.Glu109Ter) single nucleotide variant Primary ciliary dyskinesia 25 [RCV000059319]|not provided [RCV003233100] Chr15:55491203 [GRCh38]
Chr15:55783401 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_001033560.1(DYX1C1):c.629C>T (p.Ala210Val) single nucleotide variant Malignant melanoma [RCV000062894] Chr15:55466938 [GRCh38]
Chr15:55759136 [GRCh37]
Chr15:53546428 [NCBI36]
Chr15:15q21.3		 not provided
NM_130810.4(DNAAF4):c.-3G>A single nucleotide variant Dyslexia, susceptibility to, 1 [RCV000002217]|not provided [RCV001521437]|not specified [RCV000253736] Chr15:55498332 [GRCh38]
Chr15:55790530 [GRCh37]
Chr15:15q21.3		 risk factor|benign
NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter) single nucleotide variant Dyslexia, susceptibility to, 1 [RCV000002218]|Primary ciliary dyskinesia 25 [RCV001659679]|not provided [RCV001521436]|not specified [RCV000245931] Chr15:55430684 [GRCh38]
Chr15:55722882 [GRCh37]
Chr15:15q21.3		 risk factor|benign
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3		 pathogenic
GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3 copy number gain See cases [RCV000139795] Chr15:54998301..55749136 [GRCh38]
Chr15:55290499..56041334 [GRCh37]
Chr15:53077791..53828626 [NCBI36]
Chr15:15q21.3		 uncertain significance
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic
GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3 copy number gain See cases [RCV000052342] Chr15:55279032..55622007 [GRCh38]
Chr15:55571230..55914205 [GRCh37]
Chr15:53358522..53701497 [NCBI36]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.1047+1G>A single nucleotide variant not provided [RCV000268530] Chr15:55434904 [GRCh38]
Chr15:55727102 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic
NM_130810.4(DNAAF4):c.384C>T (p.Tyr128=) single nucleotide variant not provided [RCV000225799] Chr15:55491144 [GRCh38]
Chr15:55783342 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.893+5G>A single nucleotide variant not provided [RCV001346322] Chr15:55439467 [GRCh38]
Chr15:55731665 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.128A>G (p.Asn43Ser) single nucleotide variant not provided [RCV000232031] Chr15:55497855 [GRCh38]
Chr15:55790053 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.1259C>G (p.Ser420Cys) single nucleotide variant not provided [RCV001520604]|not specified [RCV000251060] Chr15:55430674 [GRCh38]
Chr15:55722872 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.572A>G (p.Glu191Gly) single nucleotide variant Primary ciliary dyskinesia 25 [RCV001660357]|not provided [RCV001510399]|not specified [RCV000242839] Chr15:55466995 [GRCh38]
Chr15:55759193 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.697C>T (p.Arg233Cys) single nucleotide variant not provided [RCV001327588] Chr15:55450308 [GRCh38]
Chr15:55742506 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.102C>T (p.Phe34=) single nucleotide variant not provided [RCV000528270] Chr15:55498228 [GRCh38]
Chr15:55790426 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.320C>T (p.Ala107Val) single nucleotide variant not provided [RCV001351454] Chr15:55491208 [GRCh38]
Chr15:55783406 [GRCh37]
Chr15:15q21.3		 uncertain significance
NC_000015.10:g.(?_55430650)_(55432622_?)del deletion Primary ciliary dyskinesia [RCV000629668] Chr15:55430650..55432622 [GRCh38]
Chr15:55722848..55724820 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.760T>A (p.Ser254Thr) single nucleotide variant not provided [RCV001860492] Chr15:55450245 [GRCh38]
Chr15:55742443 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs) duplication DNAAF4-related condition [RCV003403380]|Primary ciliary dyskinesia 25 [RCV003129933]|not provided [RCV000598295] Chr15:55467043..55467044 [GRCh38]
Chr15:55759241..55759242 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic
NM_130810.4(DNAAF4):c.1118G>A (p.Gly373Glu) single nucleotide variant not provided [RCV001358945] Chr15:55432532 [GRCh38]
Chr15:55724730 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1241A>C (p.Gln414Pro) single nucleotide variant Inborn genetic diseases [RCV003352875]|Primary ciliary dyskinesia 25 [RCV002272246]|not provided [RCV001856808] Chr15:55430692 [GRCh38]
Chr15:55722890 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.405+1G>A single nucleotide variant not provided [RCV001378631] Chr15:55491122 [GRCh38]
Chr15:55783320 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_130810.4(DNAAF4):c.896A>G (p.Lys299Arg) single nucleotide variant not provided [RCV001342300] Chr15:55435056 [GRCh38]
Chr15:55727254 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.3(DNAAF4):c.784-?_893+?del deletion Primary ciliary dyskinesia [RCV000239899] Chr15:55439472..55439581 [GRCh38]
Chr15:55731670..55731779 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.124-10T>G single nucleotide variant not provided [RCV000463704] Chr15:55497869 [GRCh38]
Chr15:55790067 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.197T>C (p.Ile66Thr) single nucleotide variant Inborn genetic diseases [RCV004022857]|not provided [RCV001851122] Chr15:55497786 [GRCh38]
Chr15:55789984 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.791A>G (p.His264Arg) single nucleotide variant Inborn genetic diseases [RCV004022855]|not provided [RCV000465005] Chr15:55439574 [GRCh38]
Chr15:55731772 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1225A>T (p.Ile409Phe) single nucleotide variant not provided [RCV001294983] Chr15:55430708 [GRCh38]
Chr15:55722906 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.741C>A (p.Phe247Leu) single nucleotide variant Inborn genetic diseases [RCV004022856]|not provided [RCV001851121] Chr15:55450264 [GRCh38]
Chr15:55742462 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.114C>A (p.Asn38Lys) single nucleotide variant not provided [RCV000476749] Chr15:55498216 [GRCh38]
Chr15:55790414 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.271G>A (p.Val91Ile) single nucleotide variant not provided [RCV000469255] Chr15:55497712 [GRCh38]
Chr15:55789910 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.881A>T (p.Lys294Met) single nucleotide variant DNAAF4-related condition [RCV003925325]|not provided [RCV001770352] Chr15:55439484 [GRCh38]
Chr15:55731682 [GRCh37]
Chr15:15q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000015.10:g.(?_55450222)_(55450367_?)del deletion Primary ciliary dyskinesia [RCV000469453] Chr15:55450222..55450367 [GRCh38]
Chr15:55742420..55742565 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu) single nucleotide variant DNAAF4-related condition [RCV003418196]|not provided [RCV000473317] Chr15:55439503 [GRCh38]
Chr15:55731701 [GRCh37]
Chr15:15q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130810.4(DNAAF4):c.165_167delinsCT (p.Pro56fs) indel not provided [RCV000460798] Chr15:55497816..55497818 [GRCh38]
Chr15:55790014..55790016 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_001204450.2(CCPG1):c.1889C>G (p.Ser630Cys) single nucleotide variant not specified [RCV004323705] Chr15:55359884 [GRCh38]
Chr15:55652082 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) deletion Dyslexia, susceptibility to, 1 [RCV002476354]|Primary ciliary dyskinesia [RCV000610966]|not provided [RCV001390585] Chr15:55467044 [GRCh38]
Chr15:55759242 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic
NM_001204450.2(CCPG1):c.1867C>T (p.His623Tyr) single nucleotide variant not specified [RCV004284486] Chr15:55359906 [GRCh38]
Chr15:55652104 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.858A>T (p.Glu286Asp) single nucleotide variant not provided [RCV000629332] Chr15:55439507 [GRCh38]
Chr15:55731705 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.474A>G (p.Ala158=) single nucleotide variant not provided [RCV000629617] Chr15:55467093 [GRCh38]
Chr15:55759291 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1595G>A (p.Arg532Gln) single nucleotide variant Inborn genetic diseases [RCV003285578] Chr15:55355362 [GRCh38]
Chr15:55647560 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.23A>G (p.Tyr8Cys) single nucleotide variant Inborn genetic diseases [RCV003256511] Chr15:55498307 [GRCh38]
Chr15:55790505 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1096A>G (p.Met366Val) single nucleotide variant not provided [RCV000538554] Chr15:55432554 [GRCh38]
Chr15:55724752 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.31C>T (p.Gln11Ter) single nucleotide variant not provided [RCV001388062] Chr15:55498299 [GRCh38]
Chr15:55790497 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_001204450.2(CCPG1):c.1153G>C (p.Glu385Gln) single nucleotide variant not specified [RCV004319237] Chr15:55360620 [GRCh38]
Chr15:55652818 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.583del (p.Lys194_Ile195insTer) deletion Dyslexia, susceptibility to, 1 [RCV003989587]|Primary ciliary dyskinesia 25 [RCV001507021]|not provided [RCV000700600] Chr15:55466984 [GRCh38]
Chr15:55759182 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.4C>A (p.Pro2Thr) single nucleotide variant not provided [RCV001313417] Chr15:55498326 [GRCh38]
Chr15:55790524 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.4C>T (p.Pro2Ser) single nucleotide variant Dyslexia, susceptibility to, 1 [RCV002507223]|Primary ciliary dyskinesia [RCV001255307]|not provided [RCV000701549] Chr15:55498326 [GRCh38]
Chr15:55790524 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.454C>T (p.Arg152Trp) single nucleotide variant not provided [RCV001861908] Chr15:55467113 [GRCh38]
Chr15:55759311 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.664G>A (p.Glu222Lys) single nucleotide variant not provided [RCV001323439] Chr15:55450341 [GRCh38]
Chr15:55742539 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.318A>G (p.Gln106=) single nucleotide variant not provided [RCV001360397] Chr15:55491210 [GRCh38]
Chr15:55783408 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.814G>A (p.Ala272Thr) single nucleotide variant not provided [RCV000705731] Chr15:55439551 [GRCh38]
Chr15:55731749 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.384_390del (p.Lys127_Tyr128insTer) deletion Dyslexia, susceptibility to, 1 [RCV000991454] Chr15:55491138..55491144 [GRCh38]
Chr15:55783336..55783342 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_130810.4(DNAAF4):c.12G>A (p.Gln4=) single nucleotide variant not provided [RCV000863884] Chr15:55498318 [GRCh38]
Chr15:55790516 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.930C>A (p.Ile310=) single nucleotide variant not provided [RCV000902022] Chr15:55435022 [GRCh38]
Chr15:55727220 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1048-9T>C single nucleotide variant not provided [RCV001039594] Chr15:55432611 [GRCh38]
Chr15:55724809 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.698G>A (p.Arg233His) single nucleotide variant Inborn genetic diseases [RCV004031519]|not provided [RCV001048601] Chr15:55450307 [GRCh38]
Chr15:55742505 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1652A>C (p.Lys551Thr) single nucleotide variant PIGB-related condition [RCV003928428]|not provided [RCV000967358] Chr15:55355419 [GRCh38]
Chr15:55647617 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.1173G>A (p.Ala391=) single nucleotide variant not provided [RCV000940901] Chr15:55430760 [GRCh38]
Chr15:55722958 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.123+4A>G single nucleotide variant not provided [RCV000864949] Chr15:55498203 [GRCh38]
Chr15:55790401 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1068A>C (p.Pro356=) single nucleotide variant not provided [RCV000872571] Chr15:55432582 [GRCh38]
Chr15:55724780 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.833T>C (p.Leu278Ser) single nucleotide variant not specified [RCV004315715] Chr15:55360940 [GRCh38]
Chr15:55653138 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.41A>C (p.Lys14Thr) single nucleotide variant not provided [RCV000819792] Chr15:55498289 [GRCh38]
Chr15:55790487 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.934del (p.Ala312fs) deletion not provided [RCV001386856] Chr15:55435018 [GRCh38]
Chr15:55727216 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.405+10A>C single nucleotide variant not provided [RCV000870052] Chr15:55491113 [GRCh38]
Chr15:55783311 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.894-3T>G single nucleotide variant not provided [RCV000817609] Chr15:55435061 [GRCh38]
Chr15:55727259 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.625C>G (p.Leu209Val) single nucleotide variant not provided [RCV000820218] Chr15:55466942 [GRCh38]
Chr15:55759140 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1073T>C (p.Val358Ala) single nucleotide variant not provided [RCV001295250] Chr15:55432577 [GRCh38]
Chr15:55724775 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.144A>G (p.Leu48=) single nucleotide variant not provided [RCV000863152] Chr15:55497839 [GRCh38]
Chr15:55790037 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.167_168del (p.Pro56fs) deletion not provided [RCV000788135] Chr15:55497815..55497816 [GRCh38]
Chr15:55790013..55790014 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_130810.4(DNAAF4):c.123G>A (p.Lys41=) single nucleotide variant Primary ciliary dyskinesia [RCV000796887] Chr15:55498207 [GRCh38]
Chr15:55790405 [GRCh37]
Chr15:15q21.3		 uncertain significance
NC_000015.10:g.(?_55430664)_(55432608_?)del deletion Primary ciliary dyskinesia [RCV000801348]|not provided [RCV001380720] Chr15:55430664..55432608 [GRCh38]
Chr15:55722862..55724806 [GRCh37]
Chr15:15q21.3		 pathogenic|no classifications from unflagged records
NM_130810.4(DNAAF4):c.402G>A (p.Met134Ile) single nucleotide variant not provided [RCV001058237] Chr15:55491126 [GRCh38]
Chr15:55783324 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1111C>G (p.Arg371Gly) single nucleotide variant not provided [RCV001242467] Chr15:55432539 [GRCh38]
Chr15:55724737 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.135T>G (p.Pro45=) single nucleotide variant not provided [RCV003104684] Chr15:55497848 [GRCh38]
Chr15:55790046 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.-2G>A single nucleotide variant not provided [RCV001549601] Chr15:55498331 [GRCh38]
Chr15:55790529 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.783+269C>G single nucleotide variant not provided [RCV001608991] Chr15:55449953 [GRCh38]
Chr15:55742151 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.123+24C>G single nucleotide variant not provided [RCV001575033] Chr15:55498183 [GRCh38]
Chr15:55790381 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1048-53G>A single nucleotide variant not provided [RCV001690343] Chr15:55432655 [GRCh38]
Chr15:55724853 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.271+116del deletion not provided [RCV001722967] Chr15:55497596 [GRCh38]
Chr15:55789794 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.-129A>T single nucleotide variant not provided [RCV001651826] Chr15:55498458 [GRCh38]
Chr15:55790656 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.894-231del deletion not provided [RCV001687032] Chr15:55435289 [GRCh38]
Chr15:55727487 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.123+53T>C single nucleotide variant not provided [RCV001645904] Chr15:55498154 [GRCh38]
Chr15:55790352 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.1154-174C>G single nucleotide variant not provided [RCV001693244] Chr15:55430953 [GRCh38]
Chr15:55723151 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.272-318del deletion not provided [RCV001694327] Chr15:55491574 [GRCh38]
Chr15:55783772 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.-13C>T single nucleotide variant not provided [RCV001716494] Chr15:55498342 [GRCh38]
Chr15:55790540 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.638-161T>C single nucleotide variant not provided [RCV001595709] Chr15:55450528 [GRCh38]
Chr15:55742726 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.123+122A>G single nucleotide variant not provided [RCV001618882] Chr15:55498085 [GRCh38]
Chr15:55790283 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.405+151G>T single nucleotide variant not provided [RCV001715027] Chr15:55490972 [GRCh38]
Chr15:55783170 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.123+70G>A single nucleotide variant not provided [RCV001588363] Chr15:55498137 [GRCh38]
Chr15:55790335 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.405+127A>T single nucleotide variant not provided [RCV001616636] Chr15:55490996 [GRCh38]
Chr15:55783194 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.123+95C>A single nucleotide variant not provided [RCV001652616] Chr15:55498112 [GRCh38]
Chr15:55790310 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.990G>A (p.Arg330=) single nucleotide variant not provided [RCV000941986] Chr15:55434962 [GRCh38]
Chr15:55727160 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.78G>A (p.Val26=) single nucleotide variant not provided [RCV000936844] Chr15:55498252 [GRCh38]
Chr15:55790450 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.554A>G (p.Glu185Gly) single nucleotide variant not provided [RCV001235460] Chr15:55467013 [GRCh38]
Chr15:55759211 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.829A>G (p.Ile277Val) single nucleotide variant Inborn genetic diseases [RCV003353247]|not provided [RCV001238933] Chr15:55439536 [GRCh38]
Chr15:55731734 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.467C>G (p.Thr156Ser) single nucleotide variant not provided [RCV001063863] Chr15:55467100 [GRCh38]
Chr15:55759298 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.215T>G (p.Val72Gly) single nucleotide variant Inborn genetic diseases [RCV004032519]|not provided [RCV001224804] Chr15:55497768 [GRCh38]
Chr15:55789966 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1047+135dup duplication not provided [RCV001569712] Chr15:55434759..55434760 [GRCh38]
Chr15:55726957..55726958 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.893+278C>T single nucleotide variant not provided [RCV001562727] Chr15:55439194 [GRCh38]
Chr15:55731392 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.406-329C>T single nucleotide variant not provided [RCV001677530] Chr15:55467490 [GRCh38]
Chr15:55759688 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.1048-297C>T single nucleotide variant not provided [RCV001689334] Chr15:55432899 [GRCh38]
Chr15:55725097 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.1047+87A>C single nucleotide variant not provided [RCV001656237] Chr15:55434818 [GRCh38]
Chr15:55727016 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.-129A>C single nucleotide variant not provided [RCV001596261] Chr15:55498458 [GRCh38]
Chr15:55790656 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.637+251del deletion not provided [RCV001694794] Chr15:55466679 [GRCh38]
Chr15:55758877 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.405+148T>C single nucleotide variant not provided [RCV001638250] Chr15:55490975 [GRCh38]
Chr15:55783173 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.272-309G>A single nucleotide variant not provided [RCV001591576] Chr15:55491565 [GRCh38]
Chr15:55783763 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.-164C>T single nucleotide variant not provided [RCV001695412] Chr15:55498493 [GRCh38]
Chr15:55790691 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.637+270G>A single nucleotide variant not provided [RCV001599181] Chr15:55466660 [GRCh38]
Chr15:55758858 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.314T>C (p.Leu105Ser) single nucleotide variant Inborn genetic diseases [RCV003160440]|not provided [RCV001055054] Chr15:55491214 [GRCh38]
Chr15:55783412 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.868C>T (p.Pro290Ser) single nucleotide variant not provided [RCV001061148] Chr15:55439497 [GRCh38]
Chr15:55731695 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.406-124A>G single nucleotide variant not provided [RCV001671881] Chr15:55467285 [GRCh38]
Chr15:55759483 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.123+107T>C single nucleotide variant not provided [RCV001678763] Chr15:55498100 [GRCh38]
Chr15:55790298 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.784-172T>C single nucleotide variant not provided [RCV001652113] Chr15:55439753 [GRCh38]
Chr15:55731951 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.1153+242A>G single nucleotide variant not provided [RCV001582170] Chr15:55432255 [GRCh38]
Chr15:55724453 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1196A>G (p.Asn399Ser) single nucleotide variant not provided [RCV001063862] Chr15:55430737 [GRCh38]
Chr15:55722935 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1047+30C>T single nucleotide variant not provided [RCV001724646] Chr15:55434875 [GRCh38]
Chr15:55727073 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.589_593del (p.Tyr197fs) deletion Primary ciliary dyskinesia 25 [RCV001078457]|not provided [RCV001390453] Chr15:55466974..55466978 [GRCh38]
Chr15:55759172..55759176 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.893+110C>T single nucleotide variant not provided [RCV001613700] Chr15:55439362 [GRCh38]
Chr15:55731560 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.272-15T>C single nucleotide variant not provided [RCV001649573] Chr15:55491271 [GRCh38]
Chr15:55783469 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) single nucleotide variant Primary ciliary dyskinesia 25 [RCV003142192]|Primary ciliary dyskinesia [RCV001255276]|not provided [RCV001229428] Chr15:55434964 [GRCh38]
Chr15:55727162 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_130810.4(DNAAF4):c.348A>C (p.Glu116Asp) single nucleotide variant not provided [RCV001207667] Chr15:55491180 [GRCh38]
Chr15:55783378 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1111C>T (p.Arg371Ter) single nucleotide variant not provided [RCV001169912] Chr15:55432539 [GRCh38]
Chr15:55724737 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.246G>C (p.Met82Ile) single nucleotide variant Dyslexia, susceptibility to, 1 [RCV002481956]|not provided [RCV001049822] Chr15:55497737 [GRCh38]
Chr15:55789935 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1177C>T (p.Leu393Phe) single nucleotide variant not provided [RCV001234181] Chr15:55430756 [GRCh38]
Chr15:55722954 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.354del (p.Ala119fs) deletion not provided [RCV001066328] Chr15:55491174 [GRCh38]
Chr15:55783372 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.186C>G (p.Ser62Arg) single nucleotide variant Inborn genetic diseases [RCV004033926]|not provided [RCV001214240] Chr15:55497797 [GRCh38]
Chr15:55789995 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1611A>G (p.Ile537Met) single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV001254098]|not provided [RCV001879880] Chr15:55355378 [GRCh38]
Chr15:55647576 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_130810.4(DNAAF4):c.784-1037_894-2012del deletion Primary ciliary dyskinesia 25 [RCV002282466]|Primary ciliary dyskinesia [RCV001255275] Chr15:55437070..55440618 [GRCh38]
Chr15:55729268..55732816 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001268924] Chr15:55439509 [GRCh38]
Chr15:55731707 [GRCh37]
Chr15:15q21.3		 pathogenic
NG_021213.1(DNAAF4):g.80484_83613del deletion Primary ciliary dyskinesia [RCV001268925] Chr15:55429622..55432751 [GRCh38]
Chr15:55721820..55724949 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.271G>T (p.Val91Phe) single nucleotide variant not provided [RCV001312259] Chr15:55497712 [GRCh38]
Chr15:55789910 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.734G>A (p.Arg245Gln) single nucleotide variant not provided [RCV001300965] Chr15:55450271 [GRCh38]
Chr15:55742469 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.853GAA[2] (p.Glu287del) microsatellite not provided [RCV001372500] Chr15:55439504..55439506 [GRCh38]
Chr15:55731702..55731704 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.635A>G (p.Lys212Arg) single nucleotide variant not provided [RCV001314902] Chr15:55466932 [GRCh38]
Chr15:55759130 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.909G>A (p.Thr303=) single nucleotide variant not provided [RCV001306976] Chr15:55435043 [GRCh38]
Chr15:55727241 [GRCh37]
Chr15:15q21.3		 likely benign|uncertain significance
NM_130810.4(DNAAF4):c.1200A>T (p.Lys400Asn) single nucleotide variant not provided [RCV001318095] Chr15:55430733 [GRCh38]
Chr15:55722931 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.733C>T (p.Arg245Ter) single nucleotide variant not provided [RCV001269807] Chr15:55450272 [GRCh38]
Chr15:55742470 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic
NM_130810.4(DNAAF4):c.272-8C>T single nucleotide variant not provided [RCV001484717] Chr15:55491264 [GRCh38]
Chr15:55783462 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1011A>G (p.Leu337=) single nucleotide variant not provided [RCV001400362] Chr15:55434941 [GRCh38]
Chr15:55727139 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1042_1043insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGCTGAAGATTCTT (p.Ser348delinsPhePhePhePhePhePhePheXaaXaaXaaXaaCysAsnLeuCysLeuProGlyTer) insertion not provided [RCV001383476] Chr15:55434909..55434910 [GRCh38]
Chr15:55727107..55727108 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.10C>T (p.Gln4Ter) single nucleotide variant DNAAF4-related condition [RCV003426065]|not provided [RCV001385313] Chr15:55498320 [GRCh38]
Chr15:55790518 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic
NM_130810.4(DNAAF4):c.1248A>G (p.Thr416=) single nucleotide variant not provided [RCV001398396] Chr15:55430685 [GRCh38]
Chr15:55722883 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1048-190dup duplication not provided [RCV001707318] Chr15:55432783..55432784 [GRCh38]
Chr15:55724981..55724982 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.825T>C (p.Thr275=) single nucleotide variant not provided [RCV001476765] Chr15:55439540 [GRCh38]
Chr15:55731738 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.908C>T (p.Thr303Met) single nucleotide variant not provided [RCV003104952] Chr15:55435044 [GRCh38]
Chr15:55727242 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1121C>T (p.Thr374Ile) single nucleotide variant not provided [RCV001770596] Chr15:55432529 [GRCh38]
Chr15:55724727 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1115G>A (p.Arg372His) single nucleotide variant not provided [RCV001767279] Chr15:55432535 [GRCh38]
Chr15:55724733 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.634A>G (p.Lys212Glu) single nucleotide variant not provided [RCV001874495] Chr15:55466933 [GRCh38]
Chr15:55759131 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.784T>G (p.Trp262Gly) single nucleotide variant not provided [RCV001874814] Chr15:55439581 [GRCh38]
Chr15:55731779 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.272-66G>A single nucleotide variant not provided [RCV001837152] Chr15:55491322 [GRCh38]
Chr15:55783520 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.779A>G (p.Glu260Gly) single nucleotide variant not provided [RCV001969030] Chr15:55450226 [GRCh38]
Chr15:55742424 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1094G>A (p.Arg365Lys) single nucleotide variant not provided [RCV001971202] Chr15:55432556 [GRCh38]
Chr15:55724754 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1153+1G>A single nucleotide variant not provided [RCV001837691] Chr15:55432496 [GRCh38]
Chr15:55724694 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.432A>G (p.Ile144Met) single nucleotide variant not provided [RCV001895702] Chr15:55467135 [GRCh38]
Chr15:55759333 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1143G>T (p.Leu381Phe) single nucleotide variant not provided [RCV001912280] Chr15:55432507 [GRCh38]
Chr15:55724705 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.229A>G (p.Lys77Glu) single nucleotide variant not provided [RCV001982161] Chr15:55497754 [GRCh38]
Chr15:55789952 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1199A>G (p.Lys400Arg) single nucleotide variant not provided [RCV001901073] Chr15:55430734 [GRCh38]
Chr15:55722932 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1609A>T (p.Ile537Leu) single nucleotide variant not provided [RCV001954941] Chr15:55355376 [GRCh38]
Chr15:55647574 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.293G>T (p.Arg98Ile) single nucleotide variant not provided [RCV001994332] Chr15:55491235 [GRCh38]
Chr15:55783433 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.989G>A (p.Arg330Gln) single nucleotide variant not provided [RCV001881082] Chr15:55434963 [GRCh38]
Chr15:55727161 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1527C>T (p.Ser509=) single nucleotide variant PIGB-related condition [RCV003968840]|not provided [RCV002087814] Chr15:55355294 [GRCh38]
Chr15:55647492 [GRCh37]
Chr15:15q21.3		 benign
NM_004855.5(PIGB):c.1519-7C>G single nucleotide variant not provided [RCV002205359] Chr15:55355279 [GRCh38]
Chr15:55647477 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1626G>C (p.Arg542=) single nucleotide variant not provided [RCV002104765] Chr15:55355393 [GRCh38]
Chr15:55647591 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.48G>C (p.Ala16=) single nucleotide variant not provided [RCV002111734] Chr15:55498282 [GRCh38]
Chr15:55790480 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.729C>G (p.Thr243=) single nucleotide variant not provided [RCV002185176] Chr15:55450276 [GRCh38]
Chr15:55742474 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.272-15T>G single nucleotide variant not provided [RCV002215384] Chr15:55491271 [GRCh38]
Chr15:55783469 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.405+12A>G single nucleotide variant not provided [RCV002131117] Chr15:55491111 [GRCh38]
Chr15:55783309 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1191A>G (p.Pro397=) single nucleotide variant not provided [RCV002172075] Chr15:55430742 [GRCh38]
Chr15:55722940 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1154-12A>G single nucleotide variant not provided [RCV002071088] Chr15:55430791 [GRCh38]
Chr15:55722989 [GRCh37]
Chr15:15q21.3		 benign
NM_130810.4(DNAAF4):c.475T>C (p.Leu159=) single nucleotide variant not provided [RCV002212580] Chr15:55467092 [GRCh38]
Chr15:55759290 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.417A>G (p.Glu139=) single nucleotide variant not provided [RCV002095942] Chr15:55467150 [GRCh38]
Chr15:55759348 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1572C>T (p.Phe524=) single nucleotide variant not provided [RCV002078675] Chr15:55355339 [GRCh38]
Chr15:55647537 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1026G>A (p.Lys342=) single nucleotide variant not provided [RCV002136471] Chr15:55434926 [GRCh38]
Chr15:55727124 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.694C>T (p.Pro232Ser) single nucleotide variant not provided [RCV003118062] Chr15:55450311 [GRCh38]
Chr15:55742509 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1165T>C (p.Tyr389His) single nucleotide variant not provided [RCV002265316] Chr15:55430768 [GRCh38]
Chr15:55722966 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.419C>G (p.Ser140Cys) single nucleotide variant not specified [RCV004324554] Chr15:55376984 [GRCh38]
Chr15:55669182 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.578G>A (p.Arg193Gln) single nucleotide variant not specified [RCV004193768] Chr15:55371921 [GRCh38]
Chr15:55664119 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.285C>G (p.Ile95Met) single nucleotide variant not specified [RCV004194943] Chr15:55377118 [GRCh38]
Chr15:55669316 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1213G>T (p.Gly405Cys) single nucleotide variant not specified [RCV004146274] Chr15:55360560 [GRCh38]
Chr15:55652758 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1618T>C (p.Tyr540His) single nucleotide variant not provided [RCV002731404] Chr15:55355385 [GRCh38]
Chr15:55647583 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.405+18A>G single nucleotide variant not provided [RCV002972098] Chr15:55491105 [GRCh38]
Chr15:55783303 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1519-20A>G single nucleotide variant not provided [RCV003033372] Chr15:55355266 [GRCh38]
Chr15:55647464 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1190C>T (p.Pro397Leu) single nucleotide variant not provided [RCV002975147] Chr15:55430743 [GRCh38]
Chr15:55722941 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.202A>C (p.Met68Leu) single nucleotide variant not specified [RCV004116780] Chr15:55378350 [GRCh38]
Chr15:55670548 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1626del (p.Lys543fs) deletion Inborn genetic diseases [RCV002864821]|not specified [RCV003404168] Chr15:55355392 [GRCh38]
Chr15:55647590 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.272-7A>G single nucleotide variant not provided [RCV002914376] Chr15:55491263 [GRCh38]
Chr15:55783461 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.784-4C>G single nucleotide variant not provided [RCV002781558] Chr15:55439585 [GRCh38]
Chr15:55731783 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1569C>A (p.Phe523Leu) single nucleotide variant not provided [RCV002780548] Chr15:55355336 [GRCh38]
Chr15:55647534 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.638-9T>C single nucleotide variant not provided [RCV002796855] Chr15:55450376 [GRCh38]
Chr15:55742574 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.2192G>A (p.Arg731Lys) single nucleotide variant not specified [RCV004185676] Chr15:55359581 [GRCh38]
Chr15:55651779 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1191G>C (p.Arg397Ser) single nucleotide variant not specified [RCV004215440] Chr15:55360582 [GRCh38]
Chr15:55652780 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1625G>A (p.Arg542Gln) single nucleotide variant not provided [RCV002639583] Chr15:55355392 [GRCh38]
Chr15:55647590 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1635del (p.Lys547fs) deletion not provided [RCV002790532] Chr15:55355399 [GRCh38]
Chr15:55647597 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.491A>G (p.Glu164Gly) single nucleotide variant not provided [RCV002890462] Chr15:55467076 [GRCh38]
Chr15:55759274 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.223G>A (p.Ala75Thr) single nucleotide variant not specified [RCV004096427] Chr15:55378329 [GRCh38]
Chr15:55670527 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.784-7A>G single nucleotide variant not provided [RCV003042284] Chr15:55439588 [GRCh38]
Chr15:55731786 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1559C>A (p.Thr520Asn) single nucleotide variant not provided [RCV002700596] Chr15:55355326 [GRCh38]
Chr15:55647524 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.2048A>G (p.Lys683Arg) single nucleotide variant not specified [RCV004082106] Chr15:55359725 [GRCh38]
Chr15:55651923 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.495T>C (p.Tyr165=) single nucleotide variant not provided [RCV003006424] Chr15:55467072 [GRCh38]
Chr15:55759270 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1605T>C (p.Ser535=) single nucleotide variant not provided [RCV002957632] Chr15:55355372 [GRCh38]
Chr15:55647570 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.1727C>T (p.Ala576Val) single nucleotide variant not specified [RCV004214895] Chr15:55360046 [GRCh38]
Chr15:55652244 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1517A>T (p.His506Leu) single nucleotide variant not specified [RCV004185661] Chr15:55360256 [GRCh38]
Chr15:55652454 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.64C>T (p.Pro22Ser) single nucleotide variant not provided [RCV002574624] Chr15:55498266 [GRCh38]
Chr15:55790464 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1939G>A (p.Val647Met) single nucleotide variant not specified [RCV004121522] Chr15:55359834 [GRCh38]
Chr15:55652032 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.271+5G>A single nucleotide variant not provided [RCV003083664] Chr15:55497707 [GRCh38]
Chr15:55789905 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.365T>A (p.Val122Asp) single nucleotide variant not specified [RCV004071029] Chr15:55377038 [GRCh38]
Chr15:55669236 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.381A>C (p.Glu127Asp) single nucleotide variant not specified [RCV004159469] Chr15:55377022 [GRCh38]
Chr15:55669220 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1047+13A>G single nucleotide variant not provided [RCV002624399] Chr15:55434892 [GRCh38]
Chr15:55727090 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1624C>T (p.Arg542Trp) single nucleotide variant not provided [RCV002937325] Chr15:55355391 [GRCh38]
Chr15:55647589 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.581T>C (p.Leu194Pro) single nucleotide variant not specified [RCV004069491] Chr15:55371918 [GRCh38]
Chr15:55664116 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.48G>T (p.Ala16=) single nucleotide variant not provided [RCV002938800] Chr15:55498282 [GRCh38]
Chr15:55790480 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.437T>C (p.Phe146Ser) single nucleotide variant not specified [RCV004100186] Chr15:55376966 [GRCh38]
Chr15:55669164 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.243C>T (p.Ala81=) single nucleotide variant not provided [RCV002647353] Chr15:55497740 [GRCh38]
Chr15:55789938 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.406-1G>C single nucleotide variant not provided [RCV003026624] Chr15:55467162 [GRCh38]
Chr15:55759360 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_130810.4(DNAAF4):c.638-16A>C single nucleotide variant not provided [RCV002900252] Chr15:55450383 [GRCh38]
Chr15:55742581 [GRCh37]
Chr15:15q21.3		 benign
NM_004855.5(PIGB):c.1630T>C (p.Leu544=) single nucleotide variant not provided [RCV002900358] Chr15:55355397 [GRCh38]
Chr15:55647595 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.522A>T (p.Lys174Asn) single nucleotide variant not provided [RCV002630074] Chr15:55467045 [GRCh38]
Chr15:55759243 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.902C>T (p.Thr301Met) single nucleotide variant not specified [RCV004127603] Chr15:55360871 [GRCh38]
Chr15:55653069 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.2129A>G (p.Asn710Ser) single nucleotide variant not specified [RCV004115234] Chr15:55359644 [GRCh38]
Chr15:55651842 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.405+8G>A single nucleotide variant not provided [RCV003063603] Chr15:55491115 [GRCh38]
Chr15:55783313 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.885T>G (p.Asp295Glu) single nucleotide variant not provided [RCV003069023] Chr15:55439480 [GRCh38]
Chr15:55731678 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.936A>C (p.Ala312=) single nucleotide variant not provided [RCV002658297] Chr15:55435016 [GRCh38]
Chr15:55727214 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1172C>T (p.Ala391Val) single nucleotide variant Inborn genetic diseases [RCV004073207]|not provided [RCV003092190] Chr15:55430761 [GRCh38]
Chr15:55722959 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.372A>T (p.Glu124Asp) single nucleotide variant not provided [RCV003067412] Chr15:55491156 [GRCh38]
Chr15:55783354 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.123+15C>G single nucleotide variant not provided [RCV002944166] Chr15:55498192 [GRCh38]
Chr15:55790390 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.1670A>C (p.Glu557Ala) single nucleotide variant not specified [RCV004081896] Chr15:55360103 [GRCh38]
Chr15:55652301 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.345A>G (p.Thr115=) single nucleotide variant not provided [RCV003069569] Chr15:55491183 [GRCh38]
Chr15:55783381 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1227T>A (p.Ile409=) single nucleotide variant not provided [RCV002608126] Chr15:55430706 [GRCh38]
Chr15:55722904 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1148T>C (p.Val383Ala) single nucleotide variant not provided [RCV002589260] Chr15:55432502 [GRCh38]
Chr15:55724700 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.255C>A (p.Thr85=) single nucleotide variant not provided [RCV002587822] Chr15:55497728 [GRCh38]
Chr15:55789926 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.1588A>G (p.Lys530Glu) single nucleotide variant not specified [RCV004076981] Chr15:55360185 [GRCh38]
Chr15:55652383 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.388C>A (p.Leu130Ile) single nucleotide variant Inborn genetic diseases [RCV003280950] Chr15:55491140 [GRCh38]
Chr15:55783338 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.428A>G (p.Gln143Arg) single nucleotide variant not specified [RCV004303241] Chr15:55376975 [GRCh38]
Chr15:55669173 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.784_893del (p.Trp262fs) deletion Primary ciliary dyskinesia 25 [RCV003225692] Chr15:55439472..55439581 [GRCh38]
Chr15:55731670..55731779 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.571G>C (p.Glu191Gln) single nucleotide variant Inborn genetic diseases [RCV003217935] Chr15:55466996 [GRCh38]
Chr15:55759194 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.59C>G (p.Ser20Cys) single nucleotide variant Primary ciliary dyskinesia 25 [RCV003146196] Chr15:55498271 [GRCh38]
Chr15:55790469 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.390_393del (p.Ser131_Val132insTer) deletion Primary ciliary dyskinesia 25 [RCV003320449] Chr15:55491135..55491138 [GRCh38]
Chr15:55783333..55783336 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_001204450.2(CCPG1):c.247A>G (p.Ile83Val) single nucleotide variant not specified [RCV004334533] Chr15:55378305 [GRCh38]
Chr15:55670503 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.125G>A (p.Cys42Tyr) single nucleotide variant not specified [RCV004336477] Chr15:55385650 [GRCh38]
Chr15:55677848 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.469A>G (p.Lys157Glu) single nucleotide variant Inborn genetic diseases [RCV003374638] Chr15:55467098 [GRCh38]
Chr15:55759296 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.340G>A (p.Ala114Thr) single nucleotide variant Inborn genetic diseases [RCV003375918] Chr15:55491188 [GRCh38]
Chr15:55783386 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.438T>C (p.Asp146=) single nucleotide variant not provided [RCV003570122] Chr15:55467129 [GRCh38]
Chr15:55759327 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001198784.2(PIERCE2):c.19-132G>A single nucleotide variant not provided [RCV003394867] Chr15:55418091 [GRCh38]
Chr15:55710289 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1299G>A (p.Glu433=) single nucleotide variant not provided [RCV003390499] Chr15:55360474 [GRCh38]
Chr15:55652672 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1221G>C (p.Glu407Asp) single nucleotide variant DNAAF4-related condition [RCV003394421] Chr15:55430712 [GRCh38]
Chr15:55722910 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.302A>G (p.Glu101Gly) single nucleotide variant not provided [RCV003394868] Chr15:55491226 [GRCh38]
Chr15:55783424 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.387A>G (p.Ala129=) single nucleotide variant not provided [RCV003579486] Chr15:55491141 [GRCh38]
Chr15:55783339 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.124-13C>A single nucleotide variant not provided [RCV003740166] Chr15:55497872 [GRCh38]
Chr15:55790070 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.894-10G>A single nucleotide variant not provided [RCV003545548] Chr15:55435068 [GRCh38]
Chr15:55727266 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.390A>G (p.Leu130=) single nucleotide variant not provided [RCV003662013] Chr15:55491138 [GRCh38]
Chr15:55783336 [GRCh37]
Chr15:15q21.3		 likely benign
NM_004855.5(PIGB):c.1644C>T (p.Phe548=) single nucleotide variant not provided [RCV003694361] Chr15:55355411 [GRCh38]
Chr15:55647609 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.103T>C (p.Cys35Arg) single nucleotide variant not provided [RCV003880741] Chr15:55498227 [GRCh38]
Chr15:55790425 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.563_567del (p.Ile188fs) deletion not provided [RCV003878736] Chr15:55467000..55467004 [GRCh38]
Chr15:55759198..55759202 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_004855.5(PIGB):c.1533C>T (p.Phe511=) single nucleotide variant not provided [RCV003545186] Chr15:55355300 [GRCh38]
Chr15:55647498 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.169A>G (p.Ile57Val) single nucleotide variant not provided [RCV003877496] Chr15:55497814 [GRCh38]
Chr15:55790012 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.598C>G (p.Leu200Val) single nucleotide variant not provided [RCV003715598] Chr15:55466969 [GRCh38]
Chr15:55759167 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.586_590del (p.Ile195_Lys196insTer) microsatellite not provided [RCV003740398] Chr15:55466977..55466981 [GRCh38]
Chr15:55759175..55759179 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.1083T>C (p.Asn361=) single nucleotide variant not provided [RCV003557546] Chr15:55432567 [GRCh38]
Chr15:55724765 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.623A>T (p.Asn208Ile) single nucleotide variant not provided [RCV003579877] Chr15:55466944 [GRCh38]
Chr15:55759142 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1204G>A (p.Val402Ile) single nucleotide variant not provided [RCV003561799] Chr15:55430729 [GRCh38]
Chr15:55722927 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.894-24TCT[3] microsatellite not provided [RCV003561969] Chr15:55435076..55435077 [GRCh38]
Chr15:55727274..55727275 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.405+17C>A single nucleotide variant not provided [RCV003838360] Chr15:55491106 [GRCh38]
Chr15:55783304 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.638-1G>A single nucleotide variant not provided [RCV003725658] Chr15:55450368 [GRCh38]
Chr15:55742566 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_130810.4(DNAAF4):c.174C>T (p.Asp58=) single nucleotide variant not provided [RCV003548529] Chr15:55497809 [GRCh38]
Chr15:55790007 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.771A>G (p.Ala257=) single nucleotide variant not provided [RCV003723825] Chr15:55450234 [GRCh38]
Chr15:55742432 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.894-12T>G single nucleotide variant not provided [RCV003716853] Chr15:55435070 [GRCh38]
Chr15:55727268 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1048-18T>C single nucleotide variant not provided [RCV003699371] Chr15:55432620 [GRCh38]
Chr15:55724818 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.638-19G>T single nucleotide variant not provided [RCV003559453] Chr15:55450386 [GRCh38]
Chr15:55742584 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.66C>T (p.Pro22=) single nucleotide variant not provided [RCV003559289] Chr15:55498264 [GRCh38]
Chr15:55790462 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.216C>A (p.Val72=) single nucleotide variant not provided [RCV003579926] Chr15:55497767 [GRCh38]
Chr15:55789965 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.272-6T>A single nucleotide variant not provided [RCV003729846] Chr15:55491262 [GRCh38]
Chr15:55783460 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.191_195del (p.Ala64fs) microsatellite not provided [RCV003677327] Chr15:55497788..55497792 [GRCh38]
Chr15:55789986..55789990 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.120G>C (p.Leu40=) single nucleotide variant not provided [RCV003557170] Chr15:55498210 [GRCh38]
Chr15:55790408 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.271+12A>G single nucleotide variant not provided [RCV003721363] Chr15:55497700 [GRCh38]
Chr15:55789898 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.51C>T (p.Val17=) single nucleotide variant not provided [RCV003727536] Chr15:55498279 [GRCh38]
Chr15:55790477 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.1153+18A>G single nucleotide variant not provided [RCV003681756] Chr15:55432479 [GRCh38]
Chr15:55724677 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.755G>C (p.Arg252Pro) single nucleotide variant not provided [RCV003737975] Chr15:55450250 [GRCh38]
Chr15:55742448 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1176A>G (p.Ala392=) single nucleotide variant Inborn genetic diseases [RCV004373989]|not provided [RCV003719819] Chr15:55430757 [GRCh38]
Chr15:55722955 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.430dup (p.Ile144fs) duplication not provided [RCV003719989] Chr15:55467136..55467137 [GRCh38]
Chr15:55759334..55759335 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.547C>T (p.Gln183Ter) single nucleotide variant not provided [RCV003711408] Chr15:55467020 [GRCh38]
Chr15:55759218 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.496dup (p.Gln166fs) duplication not provided [RCV003562200] Chr15:55467070..55467071 [GRCh38]
Chr15:55759268..55759269 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.1048-14A>G single nucleotide variant not provided [RCV003555418] Chr15:55432616 [GRCh38]
Chr15:55724814 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.893+14_893+20del deletion not provided [RCV003844364] Chr15:55439452..55439458 [GRCh38]
Chr15:55731650..55731656 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.406-1G>A single nucleotide variant not provided [RCV003565322] Chr15:55467162 [GRCh38]
Chr15:55759360 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_130810.4(DNAAF4):c.134C>G (p.Pro45Arg) single nucleotide variant Inborn genetic diseases [RCV004368765] Chr15:55497849 [GRCh38]
Chr15:55790047 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1184T>G (p.Ile395Ser) single nucleotide variant Inborn genetic diseases [RCV004368762] Chr15:55430749 [GRCh38]
Chr15:55722947 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.1213G>C (p.Asp405His) single nucleotide variant Inborn genetic diseases [RCV004368764] Chr15:55430720 [GRCh38]
Chr15:55722918 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.237A>C (p.Glu79Asp) single nucleotide variant Inborn genetic diseases [RCV004368767] Chr15:55497746 [GRCh38]
Chr15:55789944 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.299G>C (p.Arg100Thr) single nucleotide variant Inborn genetic diseases [RCV004368768] Chr15:55491229 [GRCh38]
Chr15:55783427 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.311T>C (p.Ile104Thr) single nucleotide variant Inborn genetic diseases [RCV004368769] Chr15:55491217 [GRCh38]
Chr15:55783415 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.118C>A (p.Leu40Met) single nucleotide variant Inborn genetic diseases [RCV004368763] Chr15:55498212 [GRCh38]
Chr15:55790410 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.917A>G (p.Tyr306Cys) single nucleotide variant Inborn genetic diseases [RCV004368774] Chr15:55435035 [GRCh38]
Chr15:55727233 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.3G>A (p.Met1Ile) single nucleotide variant Dyslexia, susceptibility to, 1 [RCV003990385] Chr15:55498327 [GRCh38]
Chr15:55790525 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_130810.4(DNAAF4):c.349G>A (p.Ala117Thr) single nucleotide variant Inborn genetic diseases [RCV004368770] Chr15:55491179 [GRCh38]
Chr15:55783377 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.455G>A (p.Arg152Gln) single nucleotide variant Inborn genetic diseases [RCV004368771] Chr15:55467112 [GRCh38]
Chr15:55759310 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.583A>G (p.Ile195Val) single nucleotide variant Inborn genetic diseases [RCV004368772] Chr15:55466984 [GRCh38]
Chr15:55759182 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.167C>T (p.Pro56Leu) single nucleotide variant Inborn genetic diseases [RCV004368766] Chr15:55497816 [GRCh38]
Chr15:55790014 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.86G>A (p.Arg29Lys) single nucleotide variant Inborn genetic diseases [RCV004368773] Chr15:55498244 [GRCh38]
Chr15:55790442 [GRCh37]
Chr15:15q21.3		 uncertain significance
NC_000015.10:g.(51338597_?)_(?_57376504)inv inversion Aromatase excess syndrome [RCV000019402] Chr15:51338597..57376504 [GRCh38]
Chr15:15q21.2-21.3		 pathogenic
NM_130810.4(DNAAF4):c.783+5A>G single nucleotide variant DNAAF4-related condition [RCV003946820] Chr15:55450217 [GRCh38]
Chr15:55742415 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.1181C>T (p.Thr394Met) single nucleotide variant not specified [RCV004432936] Chr15:55360592 [GRCh38]
Chr15:55652790 [GRCh37]
Chr15:15q21.3		 likely benign
NM_001204450.2(CCPG1):c.1298A>G (p.Glu433Gly) single nucleotide variant not specified [RCV004432937] Chr15:55360475 [GRCh38]
Chr15:55652673 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1837A>G (p.Ser613Gly) single nucleotide variant not specified [RCV004432940] Chr15:55359936 [GRCh38]
Chr15:55652134 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.2005G>A (p.Asp669Asn) single nucleotide variant not specified [RCV004432941] Chr15:55359768 [GRCh38]
Chr15:55651966 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.2062G>A (p.Gly688Ser) single nucleotide variant not specified [RCV004432942] Chr15:55359711 [GRCh38]
Chr15:55651909 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.2395G>T (p.Gly799Trp) single nucleotide variant not specified [RCV004432944] Chr15:55356249 [GRCh38]
Chr15:55648447 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.997G>A (p.Glu333Lys) single nucleotide variant not specified [RCV004432949] Chr15:55360776 [GRCh38]
Chr15:55652974 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.821A>G (p.Asp274Gly) single nucleotide variant not specified [RCV004432946] Chr15:55365195 [GRCh38]
Chr15:55657393 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.2351G>A (p.Gly784Asp) single nucleotide variant not specified [RCV004432943] Chr15:55356293 [GRCh38]
Chr15:55648491 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.359A>G (p.Gln120Arg) single nucleotide variant not specified [RCV004432945] Chr15:55377044 [GRCh38]
Chr15:55669242 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.822T>G (p.Asp274Glu) single nucleotide variant not specified [RCV004432947] Chr15:55365194 [GRCh38]
Chr15:55657392 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1784A>G (p.Glu595Gly) single nucleotide variant not specified [RCV004432939] Chr15:55359989 [GRCh38]
Chr15:55652187 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_130810.4(DNAAF4):c.368G>A (p.Arg123Gln) single nucleotide variant Inborn genetic diseases [RCV003379536] Chr15:55491160 [GRCh38]
Chr15:55783358 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.1247A>G (p.Asn416Ser) single nucleotide variant not specified [RCV004118326] Chr15:55360526 [GRCh38]
Chr15:55652724 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_004855.5(PIGB):c.1594C>T (p.Arg532Ter) single nucleotide variant Developmental and epileptic encephalopathy, 80 [RCV003131956] Chr15:55355361 [GRCh38]
Chr15:55647559 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_001204450.2(CCPG1):c.679A>G (p.Ile227Val) single nucleotide variant not specified [RCV004344530] Chr15:55371820 [GRCh38]
Chr15:55664018 [GRCh37]
Chr15:15q21.3		 likely benign
NM_130810.4(DNAAF4):c.11A>G (p.Gln4Arg) single nucleotide variant Inborn genetic diseases [RCV003360267] Chr15:55498319 [GRCh38]
Chr15:55790517 [GRCh37]
Chr15:15q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:194
Count of miRNA genes:183
Interacting mature miRNAs:188
Transcripts:ENST00000565113, ENST00000568310
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
RH65629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371555,652,763 - 55,652,907UniSTSGRCh37
Build 361553,440,055 - 53,440,199RGDNCBI36
Celera1532,541,337 - 32,541,481RGD
Cytogenetic Map15qUniSTS
Cytogenetic Map15q21.1UniSTS
HuRef1532,478,562 - 32,478,706UniSTS
GeneMap99-GB4 RH Map15193.32UniSTS
SHGC-53386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371555,647,490 - 55,647,623UniSTSGRCh37
Build 361553,434,782 - 53,434,915RGDNCBI36
Celera1532,536,062 - 32,536,195RGD
Cytogenetic Map15qUniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map15q21.1UniSTS
HuRef1532,473,289 - 32,473,422UniSTS
WI-16128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371555,647,864 - 55,647,989UniSTSGRCh37
Build 361553,435,156 - 53,435,281RGDNCBI36
Celera1532,536,436 - 32,536,561RGD
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15qUniSTS
HuRef1532,473,663 - 32,473,788UniSTS
GeneMap99-GB4 RH Map15200.96UniSTS
Whitehead-RH Map15174.7UniSTS
NCBI RH Map15285.4UniSTS
D15S700E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371555,669,257 - 55,669,351UniSTSGRCh37
Build 361553,456,549 - 53,456,643RGDNCBI36
Celera1532,557,830 - 32,557,924RGD
Cytogenetic Map15qUniSTS
Cytogenetic Map15q21.1UniSTS
HuRef1532,495,024 - 32,495,118UniSTS
CPR8_1467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371555,647,733 - 55,648,585UniSTSGRCh37
Build 361553,435,025 - 53,435,877RGDNCBI36
Celera1532,536,305 - 32,537,157RGD
HuRef1532,473,532 - 32,474,384UniSTS


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

endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system nervous system renal system reproductive system respiratory system
High
Medium
Low
Below cutoff 19 1 5 1 1 7 8 19 21

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000565113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1555,355,248 - 55,498,360 (-)Ensembl
RefSeq Acc Id: ENST00000568310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1555,377,024 - 55,498,341 (-)Ensembl
RefSeq Acc Id: NR_037923
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381555,355,223 - 55,498,584 (-)NCBI
GRCh371555,647,421 - 55,790,782 (-)ENTREZGENE
HuRef1532,473,220 - 32,615,109 (-)ENTREZGENE
CHM1_11555,765,913 - 55,909,221 (-)NCBI
T2T-CHM13v2.01553,158,411 - 53,301,803 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein BAG58609 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences


Additional Information

Database Acc Id Source(s)
COSMIC DNAAF4-CCPG1 COSMIC
Ensembl Genes ENSG00000261771 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000565113 ENTREZGENE
GTEx ENSG00000261771 GTEx
HGNC ID HGNC:43019 ENTREZGENE
Human Proteome Map DNAAF4-CCPG1 Human Proteome Map
NCBI Gene 100533483 ENTREZGENE
RNAcentral URS000075D292 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-28 DNAAF4-CCPG1  DNAAF4-CCPG1 readthrough (NMD candidate)  DYX1C1-CCPG1  DYX1C1-CCPG1 readthrough (NMD candidate)  Symbol and/or name change 5135510 APPROVED
2013-05-14 DYX1C1-CCPG1  DYX1C1-CCPG1 readthrough (NMD candidate)    DYX1C1-CCPG1 readthrough (non-protein coding)  Symbol and/or name change 5135510 APPROVED