SNORA99 (small nucleolar RNA, H/ACA box 99) - Rat Genome Database

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Gene: SNORA99 (small nucleolar RNA, H/ACA box 99) Homo sapiens
Analyze
Symbol: SNORA99
Name: small nucleolar RNA, H/ACA box 99
RGD ID: 10401685
HGNC Page HGNC:50403
Description: ASSOCIATED WITH Atrioventricular Septal Defect 4
Type: snorna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38811,705,362 - 11,705,558 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37811,562,871 - 11,563,067 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map8p23.1NCBI
CHM1_1811,628,387 - 11,628,583 (+)NCBICHM1_1
T2T-CHM13v2.088,034,720 - 8,034,916 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:22500510   PMID:25514182  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3 copy number gain See cases [RCV000136522] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1 copy number loss See cases [RCV000136523] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3 copy number gain See cases [RCV000138529] Chr8:7103661..12299882 [GRCh38]
Chr8:6961183..12157391 [GRCh37]
Chr8:6948593..12201760 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1 copy number loss See cases [RCV000138559] Chr8:8253505..12003060 [GRCh38]
Chr8:8111027..11860569 [GRCh37]
Chr8:8148437..11897978 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3 copy number gain See cases [RCV000140847] Chr8:10510192..12003060 [GRCh38]
Chr8:10367702..11860569 [GRCh37]
Chr8:10405112..11897978 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1 copy number loss See cases [RCV000140886] Chr8:8222339..11984333 [GRCh38]
Chr8:8079861..11841842 [GRCh37]
Chr8:8117271..11879251 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3 copy number gain See cases [RCV000141378] Chr8:11440972..11984333 [GRCh38]
Chr8:11298481..11841842 [GRCh37]
Chr8:11335891..11879251 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1 copy number loss See cases [RCV000141976] Chr8:8235647..12037723 [GRCh38]
Chr8:8093169..11895232 [GRCh37]
Chr8:8130579..11932641 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1 copy number loss See cases [RCV000142710] Chr8:8273108..12610034 [GRCh38]
Chr8:8130630..12467543 [GRCh37]
Chr8:8168040..12511914 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3 copy number gain See cases [RCV000143280] Chr8:8235544..12088347 [GRCh38]
Chr8:8093066..11945856 [GRCh37]
Chr8:8130476..11983265 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1 copy number loss See cases [RCV000143356] Chr8:8235647..12077956 [GRCh38]
Chr8:8093169..11935465 [GRCh37]
Chr8:8130579..11972874 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1 copy number loss See cases [RCV000148286] Chr8:8222339..12182465 [GRCh38]
Chr8:8079861..12039974 [GRCh37]
Chr8:8117271..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1 copy number loss See cases [RCV000050658] Chr8:8222339..12383643 [GRCh38]
Chr8:8079861..12241152 [GRCh37]
Chr8:8117271..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3 copy number gain See cases [RCV000050806] Chr8:11112581..11948451 [GRCh38]
Chr8:10970091..11805960 [GRCh37]
Chr8:11007501..11843369 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3 copy number gain See cases [RCV000052154] Chr8:9970431..11984392 [GRCh38]
Chr8:9827941..11841901 [GRCh37]
Chr8:9865351..11879310 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1 copy number loss See cases [RCV000053154] Chr8:7195664..12383643 [GRCh38]
Chr8:7053186..12241152 [GRCh37]
Chr8:7040596..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 copy number loss See cases [RCV000053165] Chr8:7234837..12514815 [GRCh38]
Chr8:7092359..12372324 [GRCh37]
Chr8:7079769..12416695 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1 copy number loss See cases [RCV000053166] Chr8:7411097..12610175 [GRCh38]
Chr8:7268619..12467684 [GRCh37]
Chr8:7256029..12512055 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1 copy number loss See cases [RCV000053167] Chr8:7411297..11961807 [GRCh38]
Chr8:7268819..11819316 [GRCh37]
Chr8:7256229..11856725 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|See cases [RCV000053168] Chr8:7411297..12546553 [GRCh38]
Chr8:7268819..12404062 [GRCh37]
Chr8:7256229..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1 copy number loss See cases [RCV000053486] Chr8:8336212..11984392 [GRCh38]
Chr8:8193728..11841901 [GRCh37]
Chr8:8231138..11879310 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1 copy number loss See cases [RCV000134092] Chr8:8545843..11814470 [GRCh38]
Chr8:8403353..11671979 [GRCh37]
Chr8:8440763..11709388 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3 copy number gain See cases [RCV000134923] Chr8:8273108..12546553 [GRCh38]
Chr8:8130630..12404062 [GRCh37]
Chr8:8168040..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1 copy number loss See cases [RCV000135749] Chr8:8273108..11948451 [GRCh38]
Chr8:8130630..11805960 [GRCh37]
Chr8:8168040..11843369 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1 copy number loss See cases [RCV000135775] Chr8:8273108..12383643 [GRCh38]
Chr8:8130630..12241152 [GRCh37]
Chr8:8168040..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3 copy number gain See cases [RCV000137864] Chr8:8222339..12050329 [GRCh38]
Chr8:8079861..11907838 [GRCh37]
Chr8:8117271..11945247 [NCBI36]
Chr8:8p23.1		 likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3 copy number gain See cases [RCV000051192] Chr8:7411297..12182465 [GRCh38]
Chr8:7268819..12039974 [GRCh37]
Chr8:7256229..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3 copy number gain See cases [RCV000053484] Chr8:8273108..11948451 [GRCh38]
Chr8:8130630..11805960 [GRCh37]
Chr8:8168040..11843369 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3 copy number gain See cases [RCV000053485] Chr8:8336212..11984392 [GRCh38]
Chr8:8193728..11841901 [GRCh37]
Chr8:8231138..11879310 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3 copy number gain See cases [RCV000053489] Chr8:8336212..12021806 [GRCh38]
Chr8:8193728..11879315 [GRCh37]
Chr8:8231138..11916724 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3 copy number gain See cases [RCV000053482] Chr8:8222139..12383784 [GRCh38]
Chr8:8079661..12241293 [GRCh37]
Chr8:8117071..12285664 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8272908-12182621)x3 copy number gain See cases [RCV000053483] Chr8:8272908..12182621 [GRCh38]
Chr8:8130430..12040130 [GRCh37]
Chr8:8167840..12077539 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
NC_000008.11:g.(?_11703278)_(11758495_?)del deletion Atrioventricular septal defect 4 [RCV000649902] Chr8:11703278..11758495 [GRCh38]
Chr8:11560787..11616004 [GRCh37]
Chr8:8p23.1		 pathogenic
NC_000008.10:g.(?_11560787)_(11616004_?)dup duplication Atrioventricular septal defect 4 [RCV000556918] Chr8:11703278..11758495 [GRCh38]
Chr8:11560787..11616004 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1 copy number loss See cases [RCV000053169] Chr8:8222339..12182465 [GRCh38]
Chr8:8079861..12039974 [GRCh37]
Chr8:8117271..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3 copy number gain See cases [RCV000134177] Chr8:7834379..12182465 [GRCh38]
Chr8:7691901..12039974 [GRCh37]
Chr8:7729311..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1 copy number loss See cases [RCV000137505] Chr8:8253505..12610034 [GRCh38]
Chr8:8111027..12467543 [GRCh37]
Chr8:8148437..12511914 [NCBI36]
Chr8:8p23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_132779
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38811,705,362 - 11,705,558 (+)NCBI
CHM1_1811,628,387 - 11,628,583 (+)NCBI
T2T-CHM13v2.088,034,720 - 8,034,916 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC SNORA99 COSMIC
GTEx SNORA99 GTEx
HGNC ID HGNC:50403 ENTREZGENE
Human Proteome Map SNORA99 Human Proteome Map
NCBI Gene SNORA99 ENTREZGENE
RNAcentral URS00008E39B9 RNACentral