Full data view for gene C16orf92

Information The variants shown are described using the NM_001109659.1 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-2851511_*1853136dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-1934661_*4564452del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
./. - c.-441880_*221680dup - - Maternal (confirmed) - pathogenic g.29592782_30257228dup g.29581461_30245907dup - - FAM57B_000004 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-428125_*180076del r.0? p.0? Maternal (confirmed) - pathogenic g.29606538_30215625del g.29595217_30204304del - - FAM57B_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.-45652_*2697dup - - Paternal (confirmed) - pathogenic g.29989010_30038245dup g.29977689_30026924dup - - FAM57B_000003 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. 4 c.*42C>T r.(=) p.(=) Unknown - VUS g.30035590C>T - c.375C>T - C16orf92_000001 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-95 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
?/. - c.*1171G>A r.(=) p.(=) Unknown - VUS g.30036719G>A - - - FAM57B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2473G>A r.(=) p.(=) Unknown - likely benign g.30038021G>A g.30026700G>A FAM57B(NM_031478.5):c.353C>T (p.T118M) - FAM57B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2494G>A r.(=) p.(=) Unknown - likely benign g.30038042G>A - - - FAM57B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*30553C>G r.(=) p.(=) Unknown - likely benign g.30066101C>G g.30054780C>G ALDOA(NM_000034.3):c.-923-4C>G (p.(=)) - FAM57B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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