FAM90A14 (family with sequence similarity 90 member A14) - Rat Genome Database

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Gene: FAM90A14 (family with sequence similarity 90 member A14) Homo sapiens
Analyze
No known orthologs.
Symbol: FAM90A14
Name: family with sequence similarity 90 member A14
RGD ID: 1604669
HGNC Page HGNC:32262
Description: FAM90A14 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010]
Type: protein-coding
RefSeq Status: INFERRED
Previously known as: AC084121.9; FAM90A14P; family with sequence similarity 90 member A14, pseudogene; putative protein FAM90A14; putative protein FAM90A14P
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,715,443 - 7,718,453 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,715,443 - 7,718,453 (+)EnsemblGRCh38hg38GRCh38
GRCh3787,572,965 - 7,575,975 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,602,665 - 7,613,951 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map8p23.1NCBI
CHM1_187,950,055 - 7,955,289 (-)NCBICHM1_1
T2T-CHM13v2.0811,761,966 - 11,764,976 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17684299   PMID:18602769  


Genomics

Variants

.
Variants in FAM90A14
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3 copy number gain Single ventricular heart [RCV000050329]|Intellectual functioning disability [RCV000050330]|See cases [RCV000050329] Chr8:7514108..8222398 [GRCh38]
Chr8:7371630..8079920 [GRCh37]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1		 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 8p23.3-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 8p23.3-23.1(chr8:2475295-7895064)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605] Chr8:2475295..7895064 [GRCh38]
Chr8:2292235..7752586 [GRCh37]
Chr8:2193565..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7142958-7895074)x3 copy number gain See cases [RCV000139295] Chr8:7142958..7895074 [GRCh38]
Chr8:7000480..7752596 [GRCh37]
Chr8:6987890..7790006 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:7300731-7981415)x3 copy number gain See cases [RCV000139259] Chr8:7300731..7981415 [GRCh38]
Chr8:7158253..7838937 [GRCh37]
Chr8:7145663..7876347 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7205665-7948701)x3 copy number gain See cases [RCV000139683] Chr8:7205665..7948701 [GRCh38]
Chr8:7063187..7806223 [GRCh37]
Chr8:7050597..7843633 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7411297-7895064)x1 copy number loss See cases [RCV000050573] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1 copy number loss See cases [RCV000050650] Chr8:7022782..8273167 [GRCh38]
Chr8:6880304..8130689 [GRCh37]
Chr8:6867714..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7512656-8222390)x3 copy number gain See cases [RCV000134740] Chr8:7512656..8222390 [GRCh38]
Chr8:7370178..8079912 [GRCh37]
Chr8:7357588..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x3 copy number gain See cases [RCV000138990] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-8273109)x1 copy number loss See cases [RCV000136011] Chr8:7195674..8273109 [GRCh38]
Chr8:7053196..8130631 [GRCh37]
Chr8:7040606..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7512656-7948705)x1 copy number loss See cases [RCV000136072] Chr8:7512656..7948705 [GRCh38]
Chr8:7370178..7806227 [GRCh37]
Chr8:7357588..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-7895074)x1 copy number loss See cases [RCV000139215] Chr8:7411303..7895074 [GRCh38]
Chr8:7268825..7752596 [GRCh37]
Chr8:7256235..7790006 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7311998-8222368)x3 copy number gain See cases [RCV000136432] Chr8:7311998..8222368 [GRCh38]
Chr8:7169520..8079890 [GRCh37]
Chr8:7156930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7471088-7806884)x1 copy number loss See cases [RCV000136456] Chr8:7471088..7806884 [GRCh38]
Chr8:7328610..7664406 [GRCh37]
Chr8:7316020..7701816 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381998-8222368)x1 copy number loss See cases [RCV000136309] Chr8:7381998..8222368 [GRCh38]
Chr8:7239520..8079890 [GRCh37]
Chr8:7226930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7471088-7834408)x1 copy number loss See cases [RCV000136465] Chr8:7471088..7834408 [GRCh38]
Chr8:7328610..7691930 [GRCh37]
Chr8:7316020..7729340 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7311968-7948707)x3 copy number gain See cases [RCV000133893] Chr8:7311968..7948707 [GRCh38]
Chr8:7169490..7806229 [GRCh37]
Chr8:7156900..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 copy number loss See cases [RCV000133941] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222398)x3 copy number gain See cases [RCV000133976] Chr8:7381969..8222398 [GRCh38]
Chr8:7239491..8079920 [GRCh37]
Chr8:7226901..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8023794)x1 copy number loss See cases [RCV000134109] Chr8:7311988..8023794 [GRCh38]
Chr8:7169510..7881316 [GRCh37]
Chr8:7156920..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 copy number loss See cases [RCV000050492] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8273167)x3 copy number gain See cases [RCV000050726] Chr8:7411297..8273167 [GRCh38]
Chr8:7268819..8130689 [GRCh37]
Chr8:7256229..8168099 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.3-23.1(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(chr8:7103661-12299882)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(chr8:7256137-7948701)x1 copy number loss See cases [RCV000138764] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x1 copy number loss See cases [RCV000133879] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7948707)x1 copy number loss See cases [RCV000133910] Chr8:7195664..7948707 [GRCh38]
Chr8:7053186..7806229 [GRCh37]
Chr8:7040596..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x3 copy number gain See cases [RCV000133940] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:7253289-8023794)x1 copy number loss See cases [RCV000134015] Chr8:7253289..8023794 [GRCh38]
Chr8:7110811..7881316 [GRCh37]
Chr8:7098221..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1 copy number loss See cases [RCV000134098] Chr8:7217074..8070470 [GRCh38]
Chr8:7074596..7927992 [GRCh37]
Chr8:7062006..7965402 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8222390)x1 copy number loss See cases [RCV000134102] Chr8:7256134..8222390 [GRCh38]
Chr8:7113656..8079912 [GRCh37]
Chr8:7101066..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000050282] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7948701)x3 copy number gain See cases [RCV000138765] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 copy number gain See cases [RCV000050484] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7411303-8364508)x3 copy number gain See cases [RCV000136002] Chr8:7411303..8364508 [GRCh38]
Chr8:7268825..8222024 [GRCh37]
Chr8:7256235..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411097-7895205)x1 copy number loss See cases [RCV000135465] Chr8:7411097..7895205 [GRCh38]
Chr8:7268619..7752727 [GRCh37]
Chr8:7256029..7790137 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7512656-8222390)x1 copy number loss See cases [RCV000134739] Chr8:7512656..8222390 [GRCh38]
Chr8:7370178..8079912 [GRCh37]
Chr8:7357588..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7948705)x3 copy number gain See cases [RCV000134808] Chr8:7381949..7948705 [GRCh38]
Chr8:7239471..7806227 [GRCh37]
Chr8:7226881..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7834323)x1 copy number loss See cases [RCV000134832] Chr8:7195674..7834323 [GRCh38]
Chr8:7053196..7691845 [GRCh37]
Chr8:7040606..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514138-7834409)x3 copy number gain See cases [RCV000136167] Chr8:7514138..7834409 [GRCh38]
Chr8:7371660..7691931 [GRCh37]
Chr8:7359070..7729341 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely benign
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 8p23.3-21.3(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 8p23.1(chr8:7256139-8222398)x1 copy number loss See cases [RCV000137187] Chr8:7256139..8222398 [GRCh38]
Chr8:7113661..8079920 [GRCh37]
Chr8:7101071..8117330 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1		 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-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(chr8:7381949-8364508)x3 copy number gain See cases [RCV000138649] Chr8:7381949..8364508 [GRCh38]
Chr8:7239471..8222024 [GRCh37]
Chr8:7226881..8259434 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.3-11.23(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 8p23.1(chr8:7411303-8222390)x3 copy number gain See cases [RCV000136108] Chr8:7411303..8222390 [GRCh38]
Chr8:7268825..8079912 [GRCh37]
Chr8:7256235..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 copy number loss See cases [RCV000138943] Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7381949-8273109)x3 copy number gain See cases [RCV000138916] Chr8:7381949..8273109 [GRCh38]
Chr8:7239471..8130631 [GRCh37]
Chr8:7226881..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-8273109)x3 copy number gain See cases [RCV000138794] Chr8:7411303..8273109 [GRCh38]
Chr8:7268825..8130631 [GRCh37]
Chr8:7256235..8168041 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:7311998-7921714)x3 copy number gain See cases [RCV000136468] Chr8:7311998..7921714 [GRCh38]
Chr8:7169520..7779236 [GRCh37]
Chr8:7156930..7816646 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:7381948-7948701)x1 copy number loss See cases [RCV000138738] Chr8:7381948..7948701 [GRCh38]
Chr8:7239470..7806223 [GRCh37]
Chr8:7226880..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1		 benign
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(chr8:7022765-8222390)x1 copy number loss See cases [RCV000138991] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7256134-8188790)x1 copy number loss See cases [RCV000142409] Chr8:7256134..8188790 [GRCh38]
Chr8:7113656..8046312 [GRCh37]
Chr8:7101066..8083722 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7834323)x1 copy number loss See cases [RCV000142422] Chr8:7311988..7834323 [GRCh38]
Chr8:7169510..7691845 [GRCh37]
Chr8:7156920..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7948705)x3 copy number gain See cases [RCV000142470] Chr8:7311988..7948705 [GRCh38]
Chr8:7169510..7806227 [GRCh37]
Chr8:7156920..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-7948705)x3 copy number gain See cases [RCV000142482] Chr8:7411303..7948705 [GRCh38]
Chr8:7268825..7806227 [GRCh37]
Chr8:7256235..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7948705)x1 copy number loss See cases [RCV000142494] Chr8:7381949..7948705 [GRCh38]
Chr8:7239471..7806227 [GRCh37]
Chr8:7226881..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8273109)x3 copy number gain See cases [RCV000142498] Chr8:7311988..8273109 [GRCh38]
Chr8:7169510..8130631 [GRCh37]
Chr8:7156920..8168041 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:7311998-8222369)x1 copy number loss See cases [RCV000136180] Chr8:7311998..8222369 [GRCh38]
Chr8:7169520..8079891 [GRCh37]
Chr8:7156930..8117301 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7834438)x1 copy number loss See cases [RCV000133917] Chr8:7311968..7834438 [GRCh38]
Chr8:7169490..7691960 [GRCh37]
Chr8:7156900..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-7895064)x1 copy number loss See cases [RCV000134008] Chr8:7514108..7895064 [GRCh38]
Chr8:7371630..7752586 [GRCh37]
Chr8:7359040..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3 copy number gain See cases [RCV000133878] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7895064)x3 copy number gain See cases [RCV000133884] Chr8:7381969..7895064 [GRCh38]
Chr8:7239491..7752586 [GRCh37]
Chr8:7226901..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7929893)x3 copy number gain See cases [RCV000136210] Chr8:7311998..7929893 [GRCh38]
Chr8:7169520..7787415 [GRCh37]
Chr8:7156930..7824825 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7546100-8222398)x1 copy number loss See cases [RCV000134009] Chr8:7546100..8222398 [GRCh38]
Chr8:7403622..8079920 [GRCh37]
Chr8:7391032..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x3 copy number gain See cases [RCV000134011] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7895074)x3 copy number gain See cases [RCV000134129] Chr8:7381949..7895074 [GRCh38]
Chr8:7239471..7752596 [GRCh37]
Chr8:7226881..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000050276] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7471088-7802122)x1 copy number loss See cases [RCV000136364] Chr8:7471088..7802122 [GRCh38]
Chr8:7328610..7659644 [GRCh37]
Chr8:7316020..7697054 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7802122)x1 copy number loss See cases [RCV000136372] Chr8:7311998..7802122 [GRCh38]
Chr8:7169520..7659644 [GRCh37]
Chr8:7156930..7697054 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-8222368)x1 copy number loss See cases [RCV000136433] Chr8:7311998..8222368 [GRCh38]
Chr8:7169520..8079890 [GRCh37]
Chr8:7156930..8117300 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7217074-8222390)x1 copy number loss See cases [RCV000134024] Chr8:7217074..8222390 [GRCh38]
Chr8:7074596..8079912 [GRCh37]
Chr8:7062006..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7714673-7760620)x3 copy number gain See cases [RCV000134031] Chr8:7714673..7760620 [GRCh38]
Chr8:7572195..7618142 [GRCh37]
Chr8:7609605..7655552 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7714673-7760620)x1 copy number loss See cases [RCV000134032] Chr8:7714673..7760620 [GRCh38]
Chr8:7572195..7618142 [GRCh37]
Chr8:7609605..7655552 [NCBI36]
Chr8:8p23.1		 pathogenic|benign
GRCh38/hg38 8p23.1(chr8:7330224-8023794)x3 copy number gain See cases [RCV000134043] Chr8:7330224..8023794 [GRCh38]
Chr8:7187746..7881316 [GRCh37]
Chr8:7175156..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8222390)x1 copy number loss See cases [RCV000134077] Chr8:7253289..8222390 [GRCh38]
Chr8:7110811..8079912 [GRCh37]
Chr8:7098221..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7834323)x1 copy number loss See cases [RCV000134113] Chr8:7381949..7834323 [GRCh38]
Chr8:7239471..7691845 [GRCh37]
Chr8:7226881..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 copy number gain See cases [RCV000050565] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7411297-8273167)x1 copy number loss See cases [RCV000050727] Chr8:7411297..8273167 [GRCh38]
Chr8:7268819..8130689 [GRCh37]
Chr8:7256229..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7834323)x3 copy number gain See cases [RCV000134112] Chr8:7381949..7834323 [GRCh38]
Chr8:7239471..7691845 [GRCh37]
Chr8:7226881..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3 copy number gain See cases [RCV000050329] Chr8:7514108..8222398 [GRCh38]
Chr8:7371630..8079920 [GRCh37]
Chr8:7359040..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7895064)x1 copy number loss See cases [RCV000133885] Chr8:7381969..7895064 [GRCh38]
Chr8:7239491..7752586 [GRCh37]
Chr8:7226901..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7948707)x1 copy number loss See cases [RCV000133894] Chr8:7311968..7948707 [GRCh38]
Chr8:7169490..7806229 [GRCh37]
Chr8:7156900..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7834438)x3 copy number gain See cases [RCV000133916] Chr8:7311968..7834438 [GRCh38]
Chr8:7169490..7691960 [GRCh37]
Chr8:7156900..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7546100-7948707)x1 copy number loss See cases [RCV000133924] Chr8:7546100..7948707 [GRCh38]
Chr8:7403622..7806229 [GRCh37]
Chr8:7391032..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8034272)x1 copy number loss See cases [RCV000134087] Chr8:7253289..8034272 [GRCh38]
Chr8:7110811..7891794 [GRCh37]
Chr8:7098221..7929204 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8429785)x1 copy number loss See cases [RCV000133805] Chr8:7411297..8429785 [GRCh38]
Chr8:7268819..8287295 [GRCh37]
Chr8:7256229..8324705 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8273167)x1 copy number loss See cases [RCV000133965] Chr8:7381969..8273167 [GRCh38]
Chr8:7239491..8130689 [GRCh37]
Chr8:7226901..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7834438)x3 copy number gain See cases [RCV000133972] Chr8:7381969..7834438 [GRCh38]
Chr8:7239491..7691960 [GRCh37]
Chr8:7226901..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7895064)x3 copy number gain See cases [RCV000133974] Chr8:7311968..7895064 [GRCh38]
Chr8:7169490..7752586 [GRCh37]
Chr8:7156900..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7895064)x1 copy number loss See cases [RCV000133975] Chr8:7311968..7895064 [GRCh38]
Chr8:7169490..7752586 [GRCh37]
Chr8:7156900..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222398)x1 copy number loss See cases [RCV000133977] Chr8:7381969..8222398 [GRCh38]
Chr8:7239491..8079920 [GRCh37]
Chr8:7226901..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1 copy number loss See cases [RCV000134012] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8222390)x1 copy number loss See cases [RCV000142394] Chr8:7381949..8222390 [GRCh38]
Chr8:7239471..8079912 [GRCh37]
Chr8:7226881..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7948705)x1 copy number loss See cases [RCV000142476] Chr8:7195674..7948705 [GRCh38]
Chr8:7053196..7806227 [GRCh37]
Chr8:7040606..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:7300731-7948701)x1 copy number loss See cases [RCV000142973] Chr8:7300731..7948701 [GRCh38]
Chr8:7158253..7806223 [GRCh37]
Chr8:7145663..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-7834438)x1 copy number loss See cases [RCV000133666] Chr8:7195664..7834438 [GRCh38]
Chr8:7053186..7691960 [GRCh37]
Chr8:7040596..7729370 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7411297-7895064)x1 copy number loss See cases [RCV000148229] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 copy number loss See cases [RCV000148231] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7514108-7948707)x3 copy number gain See cases [RCV000141468] Chr8:7514108..7948707 [GRCh38]
Chr8:7371630..7806229 [GRCh37]
Chr8:7359040..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222339)x1 copy number loss See cases [RCV000141493] Chr8:7381969..8222339 [GRCh38]
Chr8:7239491..8079861 [GRCh37]
Chr8:7226901..8117271 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-8222390)x1 copy number loss See cases [RCV000142401] Chr8:7195674..8222390 [GRCh38]
Chr8:7053196..8079912 [GRCh37]
Chr8:7040606..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7895074)x1 copy number loss See cases [RCV000142421] Chr8:7195674..7895074 [GRCh38]
Chr8:7053196..7752596 [GRCh37]
Chr8:7040606..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1 copy number loss See cases [RCV000142430] Chr8:7311988..8222390 [GRCh38]
Chr8:7169510..8079912 [GRCh37]
Chr8:7156920..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7895074)x1 copy number loss See cases [RCV000142434] Chr8:7381949..7895074 [GRCh38]
Chr8:7239471..7752596 [GRCh37]
Chr8:7226881..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7948705)x1 copy number loss See cases [RCV000142471] Chr8:7311988..7948705 [GRCh38]
Chr8:7169510..7806227 [GRCh37]
Chr8:7156920..7843637 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7311968-8237251)x1 copy number loss See cases [RCV000133752] Chr8:7311968..8237251 [GRCh38]
Chr8:7169490..8094773 [GRCh37]
Chr8:7156900..8132183 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:7311968-8222398)x3 copy number gain See cases [RCV000141528] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7895074)x1 copy number loss See cases [RCV000142403] Chr8:7311988..7895074 [GRCh38]
Chr8:7169510..7752596 [GRCh37]
Chr8:7156920..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7834323)x3 copy number gain See cases [RCV000142426] Chr8:7311988..7834323 [GRCh38]
Chr8:7169510..7691845 [GRCh37]
Chr8:7156920..7729255 [NCBI36]
Chr8:8p23.1		 benign
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 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000148188] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000148205] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 copy number loss See cases [RCV000141527] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7895074)x3 copy number gain See cases [RCV000142431] Chr8:7311988..7895074 [GRCh38]
Chr8:7169510..7752596 [GRCh37]
Chr8:7156920..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 copy number gain See cases [RCV000148154] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 copy number gain See cases [RCV000148230] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:7512656-7895074)x1 copy number loss See cases [RCV000142484] Chr8:7512656..7895074 [GRCh38]
Chr8:7370178..7752596 [GRCh37]
Chr8:7357588..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1 copy number loss See cases [RCV000142847] Chr8:7256137..7981415 [GRCh38]
Chr8:7113659..7838937 [GRCh37]
Chr8:7101069..7876347 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3 copy number gain See cases [RCV000142961] Chr8:6786638..8364508 [GRCh38]
Chr8:6644159..8222024 [GRCh37]
Chr8:6631569..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8222390)x3 copy number gain See cases [RCV000142393] Chr8:7381949..8222390 [GRCh38]
Chr8:7239471..8079912 [GRCh37]
Chr8:7226881..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x3 copy number gain See cases [RCV000142429] Chr8:7311988..8222390 [GRCh38]
Chr8:7169510..8079912 [GRCh37]
Chr8:7156920..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-8222398)x3 copy number gain See cases [RCV000133631] Chr8:7022782..8222398 [GRCh38]
Chr8:6880304..8079920 [GRCh37]
Chr8:6867714..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x1 copy number loss See cases [RCV000133680] Chr8:7514108..8222398 [GRCh38]
Chr8:7371630..8079920 [GRCh37]
Chr8:7359040..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7546074-8222390)x3 copy number gain See cases [RCV000139816] Chr8:7546074..8222390 [GRCh38]
Chr8:7403596..8079912 [GRCh37]
Chr8:7391006..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x3 copy number gain See cases [RCV000133660] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8273167)x1 copy number loss See cases [RCV000133700] Chr8:7195664..8273167 [GRCh38]
Chr8:7053186..8130689 [GRCh37]
Chr8:7040596..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-7895064)x1 copy number loss See cases [RCV000133718] Chr8:7022782..7895064 [GRCh38]
Chr8:6880304..7752586 [GRCh37]
Chr8:6867714..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7187864-8222390)x1 copy number loss See cases [RCV000133754] Chr8:7187864..8222390 [GRCh38]
Chr8:7045386..8079912 [GRCh37]
Chr8:7032796..8117322 [NCBI36]
Chr8:8p23.1		 benign
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
NM_001164452.1(FAM90A14):c.954C>T (p.Ser318=) single nucleotide variant not provided [RCV003423898] Chr8:7718012 [GRCh38]
Chr8:7575534 [GRCh37]
Chr8:8p23.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:357
Count of miRNA genes:294
Interacting mature miRNAs:319
Transcripts:ENST00000530386
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENST00000648315   ⟹   ENSP00000497439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl87,715,443 - 7,718,453 (+)Ensembl
RefSeq Acc Id: NM_001164452   ⟹   NP_001157924
RefSeq Status: INFERRED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,715,443 - 7,718,453 (+)NCBI
GRCh3787,572,965 - 7,575,975 (+)RGD
T2T-CHM13v2.0811,761,966 - 11,764,976 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001157924 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000497439
  ENSP00000497439.1
GenBank Protein P0C7W9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001157924   ⟸   NM_001164452
- UniProtKB: P0C7W9 (UniProtKB/Swiss-Prot),   A0AAG2UXC4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000497439   ⟸   ENST00000648315

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0C7W9-F1-model_v2 AlphaFold P0C7W9 1-464 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32262 AgrOrtholog
COSMIC FAM90A14 COSMIC
Ensembl Genes ENSG00000285814 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000648315 ENTREZGENE
  ENST00000648315.1 UniProtKB/Swiss-Prot
GTEx ENSG00000285814 GTEx
HGNC ID HGNC:32262 ENTREZGENE
Human Proteome Map FAM90A14 Human Proteome Map
InterPro FAM90 UniProtKB/Swiss-Prot
  Znf-CCHC_6 UniProtKB/Swiss-Prot
NCBI Gene FAM90A14 ENTREZGENE
OMIM 613050 OMIM
PANTHER PROTEIN FAM90A10P-RELATED UniProtKB/Swiss-Prot
  PTHR16035 UniProtKB/Swiss-Prot
Pfam zf-CCHC_6 UniProtKB/Swiss-Prot
PharmGKB PA166351786 PharmGKB
UniProt A0AAG2UXC4 ENTREZGENE
  F90AE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-07 FAM90A14  family with sequence similarity 90 member A14  AC084121.9  Putative protein FAM90A14P  Data merged from RGD:16570994 737654 PROVISIONAL
2021-11-15 FAM90A14  family with sequence similarity 90 member A14  FAM90A14P  family with sequence similarity 90 member A14, pseudogene  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 FAM90A14P  family with sequence similarity 90 member A14, pseudogene  FAM90A14P  family with sequence similarity 90, member A14, pseudogene  Symbol and/or name change 5135510 APPROVED
2012-03-01 FAM90A14P  family with sequence similarity 90, member A14, pseudogene  FAM90A14  family with sequence similarity 90, member A14  Symbol and/or name change 5135510 APPROVED