LOC101927919 (uncharacterized LOC101927919) - Rat Genome Database

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Gene: LOC101927919 (uncharacterized LOC101927919) Homo sapiens
Analyze
Symbol: LOC101927919
Name: uncharacterized LOC101927919
RGD ID: 38666673
Description: ASSOCIATED WITH Intellectual disability; intellectual disability
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386117,672,813 - 117,675,284 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376117,993,976 - 117,996,447 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6q22.1NCBI
HuRef6115,575,089 - 115,577,559 (-)NCBIHuRef
CHM1_16118,257,869 - 118,260,341 (-)NCBICHM1_1
T2T-CHM13v2.06118,857,051 - 118,859,522 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Genomics

Variants

.
Variants in LOC101927919
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 copy number loss See cases [RCV000139944] Chr6:116815199..119718887 [GRCh38]
Chr6:117136362..120040041 [GRCh37]
Chr6:117243055..120081740 [NCBI36]
Chr6:6q22.1-22.31
likely pathogenic
GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3 copy number gain See cases [RCV000053369] Chr6:117206991..117881842 [GRCh38]
Chr6:117528154..118203005 [GRCh37]
Chr6:117634847..118309698 [NCBI36]
Chr6:6q22.1
uncertain significance
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 copy number gain See cases [RCV000137726] Chr6:117607147..126699980 [GRCh38]
Chr6:117928310..127021125 [GRCh37]
Chr6:118035003..127062818 [NCBI36]
Chr6:6q22.1-22.32
pathogenic
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 copy number loss See cases [RCV000135623] Chr6:115326962..117935240 [GRCh38]
Chr6:115648126..118256403 [GRCh37]
Chr6:115754819..118363096 [NCBI36]
Chr6:6q22.1-22.2
likely pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33
pathogenic
NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del deletion Intellectual disability [RCV000157074] Chr6:117640629..117958880 [GRCh38]
Chr6:117961792..118280043 [GRCh37]
Chr6:6q22.1-22.2
pathogenic
NC_000006.11:g.(117971549_117971550)_(118218719_118218720)del deletion Intellectual disability [RCV000157075] Chr6:117650387..117897556 [GRCh38]
Chr6:117971550..118218719 [GRCh37]
Chr6:6q22.1
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2
pathogenic
NR_110854.1(LOC101927919):n.46C>T single nucleotide variant not provided [RCV002226038] Chr6:117675239 [GRCh38]
Chr6:117996402 [GRCh37]
Chr6:6q22.1
likely benign
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 copy number loss Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] Chr6:113857248..130442177 [GRCh38]
Chr6:6q21-23.1
pathogenic

Expression


Sequence


RefSeq Acc Id: NR_110854
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,672,813 - 117,675,284 (-)NCBI
T2T-CHM13v2.06118,857,051 - 118,859,522 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC LOC101927919 COSMIC
GTEx LOC101927919 GTEx
Human Proteome Map LOC101927919 Human Proteome Map
NCBI Gene LOC101927919 ENTREZGENE
RNAcentral URS000075DF30 RNACentral