Full data view for gene CITED1

Information The variants shown are described using the NM_004143.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.? r.(?) p.(Gln6*) Unknown - VUS g.? - - - USP9X_000005 - PubMed: Heidet 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K185 PubMed: Heidet 2017 - - - France - - 0 - - 1 Johan den Dunnen
./. - c.-192244_*398489dup - - Maternal (confirmed) - pathogenic g.71123084_71718505dup g.71903234_72498655dup - - NHSL2_000040 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.-34C>G r.(?) p.(=) Unknown - likely benign g.71522753G>C - CITED1(NM_001144885.1):c.45C>G (p.P15=) - CITED1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104C>T r.(?) p.(Ala35Val) Unknown - likely benign g.71522051G>A g.72302201G>A CITED1(NM_004143.3):c.104C>T (p.A35V) - CITED1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217A>G r.(?) p.(Thr73Ala) Unknown - likely benign g.71521938T>C g.72302088T>C CITED1(NM_004143.3):c.217A>G (p.T73A) - CITED1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.288C>G r.(?) p.(His96Gln) Maternal (inferred) - VUS g.71521867G>C g.72302017G>C - - CITED1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.288C>G r.(?) p.(His96Gln) Maternal (inferred) - VUS g.71521867G>C g.72302017G>C - - CITED1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 3 c.288C>G r.(?) p.(His96Gln) Parent #1 - VUS g.71521867G>C g.72302017G>C H96Q - CITED1_000001 recurrent, found 46 times PubMed: Tarpey 2009 - - Germline - 46/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 46 Lucy Raymond
?/. - c.355G>C r.(?) p.(Gly119Arg) Unknown - VUS g.71521800C>G g.72301950C>G CITED1(NM_001144885.1):c.433G>C (p.(Gly145Arg)) - CITED1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.441C>G r.(?) p.(Ile147Met) Unknown - likely benign g.71521714G>C g.72301864G>C CITED1(NM_004143.3):c.441C>G (p.I147M) - CITED1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.506G>A r.(?) p.(Arg169Gln) Unknown - likely benign g.71521649C>T g.72301799C>T CITED1(NM_004143.3):c.506G>A (p.R169Q) - CITED1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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