Full data view for gene CTRC

Information The variants shown are described using the NM_007272.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.285C>T r.(=) p.(=) Parent #1 - likely benign g.15768997C>T g.15442501C>T - - CTRC_000003 185 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41307798 Germline - 185/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 185 Mohammed Faruq
-?/. - c.285C>T r.(=) p.(=) Both (homozygous) - likely benign g.15768997C>T g.15442501C>T - - CTRC_000003 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41307798 Germline - 4/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.531G>A r.(?) p.(Leu177=) Unknown - likely benign g.15771138G>A - CTRC(NM_007272.2):c.531G>A (p.L177=) - CTRC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.639+4A>C r.spl? p.? Unknown - VUS g.15771250A>C g.15444755A>C CTRC(NM_007272.3):c.639+4A>C - CTRC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.649G>A r.(?) p.(Gly217Ser) Unknown - likely pathogenic g.15772101G>A g.15445606G>A - - CTRC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.661A>T r.(?) p.(Asn221Tyr) Unknown - VUS g.15772113A>T - CTRC(NM_007272.3):c.661A>T (p.(Asn221Tyr)) - CTRC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.674A>C r.(?) p.(Glu225Ala) Unknown - likely pathogenic (dominant) g.15772126A>C g.15445631A>C - - CTRC_000007 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-240766 rs201486613 Germline ? 1/80 cases - - - DNA SEQ-NG blood - PCTT pat69 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
?/. - c.703G>A r.(?) p.(Val235Ile) Parent #1 - VUS g.15772155G>A g.15445660G>A - - CTRC_000004 conflicting interpretations of pathogenicity; 35 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140993290 Germline - 35/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 35 Mohammed Faruq
?/. - c.703G>A r.(?) p.(Val235Ile) Unknown - VUS g.15772155G>A - CTRC(NM_007272.2):c.703G>A (p.V235I), CTRC(NM_007272.3):c.703G>A (p.(Val235Ile)) - CTRC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703G>A r.(?) p.(Val235Ile) Unknown - likely benign g.15772155G>A - CTRC(NM_007272.2):c.703G>A (p.V235I), CTRC(NM_007272.3):c.703G>A (p.(Val235Ile)) - CTRC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760C>T r.(?) p.(Arg254Trp) Parent #1 - VUS g.15772212C>T g.15445717C>T - - CTRC_000005 risk factor; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909293 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-/. - c.760C>T r.(?) p.(Arg254Trp) Unknown - benign g.15772212C>T - CTRC(NM_007272.2):c.760C>T (p.R254W), CTRC(NM_007272.3):c.760C>T (p.R254W) - CTRC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760C>T r.(?) p.(Arg254Trp) Unknown - VUS g.15772212C>T - CTRC(NM_007272.2):c.760C>T (p.R254W), CTRC(NM_007272.3):c.760C>T (p.R254W) - CTRC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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