Full data view for gene CARS2

Information The variants shown are described using the NM_024537.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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.1A>G r.(?) p.(Met1?) Unknown - VUS g.111358440T>C - CARS2(NM_024537.3):c.1A>G (p.M1?) - CARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.84G>C r.(?) p.(Trp28Cys) Unknown - VUS g.111358357C>G g.110706010C>G CARS2(NM_024537.2):c.84G>C (p.(Trp28Cys)) - CARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244G>A r.(?) p.(Val82Ile) Parent #1 - VUS g.111357899C>T g.110705552C>T - - CARS2_000008 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117788141 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.244G>A r.(?) p.(Val82Ile) Unknown - VUS g.111357899C>T - CARS2(NM_024537.4):c.244G>A (p.V82I) - CARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275+1G>A r.spl? p.? Unknown - VUS g.111357867C>T g.110705520C>T CARS2(NM_024537.2):c.275+1G>A (p.?) - CARS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521C>A r.(?) p.(Ser174Tyr) Unknown - VUS g.111340118G>T - - - CARS2_000009 - PubMed: Marcogliese 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD, VMD Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.572-3_572-2del r.spl? p.? Unknown - likely benign g.111335484_111335485del g.110683137_110683138del CARS2(NM_024537.2):c.572-3_572-2del (p.?) - CARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.647G>A r.(?) p.(Gly216Glu) Parent #1 - benign g.111335406C>T g.110683059C>T - - CARS2_000007 90 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146773721 Germline - 90/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 90 Mohammed Faruq
+?/. - c.752C>T r.(?) p.(Pro251Leu) Unknown - likely pathogenic g.111329354G>A - CARS2(NM_024537.4):c.752C>T (p.P251L) - CARS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952A>G r.(?) p.(Met318Val) Both (homozygous) - VUS g.111315833T>C g.110663486T>C - - CARS2_000005 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
?/. - c.952A>G r.(?) p.(Met318Val) Both (homozygous) - VUS g.111315833T>C g.110663486T>C - - CARS2_000005 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF067 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders; family, 2 affected sibs - - Jordan - - - - - 2 Johan den Dunnen
?/. - c.977T>C r.(?) p.(Ile326Thr) Unknown - VUS g.111315808A>G - CARS2(NM_024537.4):c.977T>C (p.(Ile326Thr)) - CARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1054+8G>A r.(=) p.(=) Unknown - likely benign g.111303373C>T g.110651026C>T CARS2(NM_024537.2):c.1054+8G>A (p.(=)) - CARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1207A>G r.(?) p.(Lys403Glu) Unknown - VUS g.111298424T>C - CARS2(NM_024537.4):c.1207A>G (p.K403E) - CARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1416+5G>A r.spl? p.? Unknown - likely benign g.111296727C>T - CARS2(NM_024537.4):c.1416+5G>A - CARKD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>G r.(?) p.(Leu483Trp) Parent #1 - pathogenic g.111294837A>C g.110642490A>C - - CARS2_000006 - PubMed: Biswas 2018 - - Germline no - - - - DNA SEQ-NG-I - WES retinal degeneration, retinal disease PKRD320 III:4 PubMed: Biswas 2018 3-generation family, 3 affected M yes Pakistan - - - - - 3 Jasmine Chen
?/. - c.1448T>G r.(?) p.(Leu483Trp) Unknown - VUS g.111294837A>C - CARS2(NM_024537.4):c.1448T>G (p.(Leu483Trp)) - CARS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1480C>T r.(?) p.(Arg494Trp) Unknown - likely pathogenic g.111294805G>A - CARS2(NM_024537.4):c.1480C>T (p.R494W) - CARKD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1489G>A r.(?) p.(Val497Ile) Unknown - likely benign g.111294796C>T g.110642449C>T CARS2(NM_024537.2):c.1489G>A (p.(Val497Ile)) - CARKD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1632C>A r.(?) p.(Ser544Arg) Unknown - likely benign g.111293947G>T g.110641600G>T CARS2(NM_024537.2):c.1632C>A (p.(Ser544Arg)) - CARKD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1650G>A r.(?) p.(Trp550Ter) Unknown - VUS g.111293929C>T g.110641582C>T - - CARKD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681A>G r.(?) p.(Lys561Glu) Unknown - likely benign g.111293898T>C g.110641551T>C CARS2(NM_024537.2):c.1681A>G (p.(Lys561Glu)) - CARKD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1683dup r.(?) p.(Ser562Ilefs*36) Unknown - VUS g.111293900dup - CARS2(NM_024537.4):c.1683dupA (p.S562Ifs*36) - CARKD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4378C>T r.(=) p.(=) Unknown - VUS g.111289506G>A - NAXD(NM_001242882.2):c.749G>A (p.(Arg250His)) - CARKD_000019 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.