Unique variants in the CITED1 gene

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. 1 - c.? r.(?) p.(Gln6*) - VUS g.? - - - USP9X_000005 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-192244_*398489dup - - - pathogenic g.71123084_71718505dup g.71903234_72498655dup - - NHSL2_000040 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-34C>G r.(?) p.(=) - likely benign g.71522753G>C - CITED1(NM_001144885.1):c.45C>G (p.P15=) - CITED1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.104C>T r.(?) p.(Ala35Val) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.217A>G r.(?) p.(Thr73Ala) - 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 - - - - - VKGL-NL_Rotterdam
?/. 3 3 c.288C>G r.(?) p.(His96Gln) - VUS g.71521867G>C g.72302017G>C H96Q - CITED1_000001 recurrent, found 46 times PubMed: Tarpey 2009 - - Germline - 46/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.355G>C r.(?) p.(Gly119Arg) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.441C>G r.(?) p.(Ile147Met) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.506G>A r.(?) p.(Arg169Gln) - 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 - - - - - VKGL-NL_Rotterdam
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