Full data view for gene CLDN19

Information The variants shown are described using the NM_148960.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.39G>T r.(?) p.(Leu13Phe) Parent #1 - likely benign g.43205696C>A g.42740025C>A - - CLDN19_000012 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12065961 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.59G>A r.(?) p.(Gly20Asp) Parent #1 - pathogenic g.43205676C>T g.42740005C>T - - CLDN19_000011 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118203979 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.65T>C r.(?) p.(Ile22Thr) Unknown - VUS g.43205670A>G g.42739999A>G CLDN19(NM_001123395.1):c.65T>C (p.I22T), CLDN19(NM_148960.3):c.65T>C (p.(Ile22Thr)) - CLDN19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65T>C r.(?) p.(Ile22Thr) Parent #1 - VUS g.43205670A>G g.42739999A>G - - CLDN19_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140913043 Germline - 1/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.65T>C r.(?) p.(Ile22Thr) Unknown - VUS g.43205670A>G - CLDN19(NM_001123395.1):c.65T>C (p.I22T), CLDN19(NM_148960.3):c.65T>C (p.(Ile22Thr)) - CLDN19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139T>C r.(?) p.(Tyr47His) Unknown - VUS g.43205596A>G - CLDN19(NM_148960.3):c.139T>C (p.(Tyr47His)) - CLDN19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149T>G r.(?) p.(Leu50Arg) Unknown - VUS g.43205586A>C g.42739915A>C CLDN19(NM_001123395.1):c.149T>G (p.L50R) - CLDN19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>G r.(?) p.(Leu50=) Unknown - likely benign g.43205585G>C - CLDN19(NM_001123395.1):c.150C>G (p.L50=) - CLDN19_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.153G>T r.(?) p.(Trp51Cys) Parent #1 - VUS g.43205582C>A g.42739911C>A - - CLDN19_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907418 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.181C>T r.(?) p.(Gln61Ter) Unknown - pathogenic g.43205554G>A - - - CLDN19_000015 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335C>T r.(?) p.(Pro112Leu) Unknown - VUS g.43204145G>A - CLDN19(NM_148960.3):c.335C>T (p.(Pro112Leu)) - CLDN19_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474-7C>T r.(=) p.(=) Unknown - likely benign g.43201708G>A g.42736037G>A CLDN19(NM_001123395.1):c.474-7C>T - CLDN19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.561G>A r.(?) p.(Pro187=) Unknown - benign g.43201614C>T g.42735943C>T CLDN19(NM_148960.3):c.561G>A (p.P187=) - CLDN19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.561G>A r.(?) p.(Pro187=) Unknown - benign g.43201614C>T g.42735943C>T CLDN19(NM_148960.3):c.561G>A (p.P187=) - CLDN19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.599G>A r.(?) p.(Arg200Gln) Parent #1 - likely benign g.43201576C>T g.42735905C>T - - CLDN19_000007 64 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116804195 Germline - 64/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 64 Mohammed Faruq
-/. - c.626+15C>T r.(=) p.(=) Unknown - benign g.43201534G>A g.42735863G>A - - CLDN19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626+74G>A r.(=) p.(=) Unknown - likely benign g.43201475C>T g.42735804C>T CLDN19(NM_001185117.1):c.615G>A (p.S205=) - CLDN19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626+75C>G r.(=) p.(=) Unknown - likely benign g.43201474G>C g.42735803G>C CLDN19(NM_001185117.1):c.616C>G (p.Q206E) - CLDN19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626+75C>G r.(=) p.(=) Unknown - likely benign g.43201474G>C - CLDN19(NM_001185117.1):c.616C>G (p.Q206E) - CLDN19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.646G>A r.(?) p.(Ala216Thr) Unknown - benign g.43200786C>T g.42735115C>T CLDN19(NM_148960.3):c.646G>A (p.(Ala216Thr), p.A216T) - CLDN19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646G>A r.(?) p.(Ala216Thr) Unknown - VUS g.43200786C>T - CLDN19(NM_148960.3):c.646G>A (p.(Ala216Thr), p.A216T) - CLDN19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658G>T r.(?) p.(Gly220Cys) Unknown - VUS g.43200774C>A - - - CLDN19_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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