Full data view for gene CORO1A

Information The variants shown are described using the NM_007074.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

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.-3011897_*1688399dup - - 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.-2095047_*4399715del 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.-602266_*56943dup - - 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.-588511_*15339del 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.63C>T r.(?) p.(Ala21=) Unknown - likely benign g.30196593C>T - CORO1A(NM_007074.3):c.63C>T (p.A21=) - CORO1A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.248_249del r.(?) p.(Pro83ArgfsTer11) Parent #2 ACMG pathogenic g.30197968_30197969del g.30186647_30186648del c.248_249delCT - CORO1A_000017 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat26,1 PubMed: Stray-Pedersen 2017 family, 2 affected M - United States Europe - - - - 2 Johan den Dunnen
-?/. - c.321+15G>T r.(=) p.(=) Unknown - likely benign g.30198056G>T - CORO1A(NM_007074.4):c.321+15G>T - CORO1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.336A>G r.(?) p.(Pro112=) Unknown - benign g.30198151A>G g.30186830A>G CORO1A(NM_001193333.3):c.336A>G (p.P112=) - CORO1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347T>C r.(?) p.(Leu116Pro) Unknown - VUS g.30198162T>C g.30186841T>C CORO1A(NM_007074.4):c.347T>C (p.L116P) - CORO1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347T>C r.(?) p.(Leu116Pro) Unknown - likely benign g.30198162T>C g.30186841T>C CORO1A(NM_007074.4):c.347T>C (p.L116P) - CORO1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.373G>A r.(?) p.(Val125Ile) Unknown - VUS g.30198188G>A - - - CORO1A_000012 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.655G>A r.(?) p.(Glu219Lys) Unknown - likely benign g.30198721G>A g.30187400G>A CORO1A(NM_007074.3):c.655G>A (p.E219K) - CORO1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.689C>T r.(?) p.(Ser230Leu) Unknown - likely benign g.30198755C>T g.30187434C>T CORO1A(NM_007074.3):c.689C>T (p.S230L) - CORO1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A r.(?) p.(Gln246=) Unknown - likely benign g.30198804G>A g.30187483G>A CORO1A(NM_007074.3):c.738G>A (p.Q246=), CORO1A(NM_007074.4):c.738G>A (p.Q246=) - CORO1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A r.(?) p.(Gln246=) Unknown - likely benign g.30198804G>A - CORO1A(NM_007074.3):c.738G>A (p.Q246=), CORO1A(NM_007074.4):c.738G>A (p.Q246=) - CORO1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774G>A r.(?) p.(Pro258=) Unknown - likely benign g.30199063G>A - CORO1A(NM_007074.3):c.774G>A (p.P258=) - CORO1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792G>A r.(?) p.(Leu264=) Unknown - likely benign g.30199081G>A g.30187760G>A CORO1A(NM_007074.3):c.792G>A (p.L264=), CORO1A(NM_007074.4):c.792G>A (p.L264=) - CORO1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792G>A r.(?) p.(Leu264=) Unknown - likely benign g.30199081G>A - CORO1A(NM_007074.3):c.792G>A (p.L264=), CORO1A(NM_007074.4):c.792G>A (p.L264=) - CORO1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804C>T r.(?) p.(Ser268=) Unknown - likely benign g.30199093C>T g.30187772C>T CORO1A(NM_007074.3):c.804C>T (p.S268=), CORO1A(NM_007074.4):c.804C>T (p.S268=) - CORO1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804C>T r.(?) p.(Ser268=) Unknown - likely benign g.30199093C>T - CORO1A(NM_007074.3):c.804C>T (p.S268=), CORO1A(NM_007074.4):c.804C>T (p.S268=) - CORO1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.837C>T r.(?) p.(Thr279=) Unknown - likely benign g.30199126C>T - CORO1A(NM_007074.4):c.837C>T (p.T279=) - CORO1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861+20T>G r.(=) p.(=) Unknown - likely benign g.30199170T>G - CORO1A:c.861+20T>G - CORO1A_000013 - PubMed: Maranhao 2015 - - Germline - 6/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 6 LOVD
-?/. - c.1002C>T r.(?) p.(Ile334=) Unknown - likely benign g.30199403C>T - CORO1A(NM_007074.4):c.1002C>T (p.I334=) - BOLA2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007+13C>T r.(=) p.(=) Unknown - likely benign g.30199421C>T g.30188100C>T CORO1A(NM_007074.4):c.1007+13C>T - CORO1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1034G>A r.(?) p.(Cys345Tyr) Unknown - VUS g.30199539G>A g.30188218G>A - - CORO1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1078del r.(?) p.(Gln360ArgfsTer45) Parent #1 ACMG pathogenic g.30199694del g.30188373del c.1078delC - CORO1A_000018 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat26,1 PubMed: Stray-Pedersen 2017 family, 2 affected M - United States Europe - - - - 2 Johan den Dunnen
-?/. - c.1097C>A r.(?) p.(Pro366His) Unknown - likely benign g.30199713C>A g.30188392C>A CORO1A(NM_007074.3):c.1097C>A (p.P366H), CORO1A(NM_007074.4):c.1097C>A (p.P366H) - CORO1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1097C>A r.(?) p.(Pro366His) Parent #1 - benign g.30199713C>A g.30188392C>A - - CORO1A_000004 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150857828 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1097C>A r.(?) p.(Pro366His) Unknown - likely benign g.30199713C>A g.30188392C>A CORO1A(NM_007074.3):c.1097C>A (p.P366H), CORO1A(NM_007074.4):c.1097C>A (p.P366H) - CORO1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1146T>C r.(?) p.(Gly382=) Unknown - benign g.30199762T>C g.30188441T>C CORO1A(NM_007074.3):c.1146T>C (p.G382=), CORO1A(NM_007074.4):c.1146T>C (p.G382=) - BOLA2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1146T>C r.(?) p.(Gly382=) Unknown - likely benign g.30199762T>C g.30188441T>C CORO1A(NM_007074.3):c.1146T>C (p.G382=), CORO1A(NM_007074.4):c.1146T>C (p.G382=) - BOLA2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1189G>A r.(?) p.(Val397Ile) Unknown - likely benign g.30199805G>A g.30188484G>A CORO1A(NM_007074.3):c.1189G>A (p.V397I), CORO1A(NM_007074.4):c.1189G>A (p.V397I) - CORO1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1189G>A r.(?) p.(Val397Ile) Unknown - likely benign g.30199805G>A g.30188484G>A CORO1A(NM_007074.3):c.1189G>A (p.V397I), CORO1A(NM_007074.4):c.1189G>A (p.V397I) - CORO1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.