Unique variants in gene CITED1

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)     

ClassClinical     

RNA change     

Protein     

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.-192244_*398489dup - - - g.71123084_71718505dup g.71903234_72498655dup - - NHSL2_000040 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-66+1048C>T likely benign r.(=) p.(=) g.71525279G>A - CITED1(NM_001144885.1):c.-108-7C>T (p.(=)) - CITED1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.104C>T likely benign r.(?) p.(Ala35Val) g.71522051G>A - CITED1(NM_004143.3):c.104C>T (p.A35V) - CITED1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.217A>G likely benign r.(?) p.(Thr73Ala) g.71521938T>C - CITED1(NM_004143.3):c.217A>G (p.T73A) - CITED1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 3 c.288C>G - r.(?) p.(His96Gln) 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 VUS r.(?) p.(Gly119Arg) g.71521800C>G - CITED1(NM_001144885.1):c.433G>C (p.(Gly145Arg), p.(Gly119Arg)) - CITED1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.441C>G likely benign r.(?) p.(Ile147Met) g.71521714G>C - CITED1(NM_001144885.1):c.519C>G (p.(Ile173Met), p.(Ile147Met)) - CITED1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.506G>A likely benign r.(?) p.(Arg169Gln) g.71521649C>T - CITED1(NM_004143.3):c.506G>A (p.R169Q) - CITED1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.557C>T likely benign r.(?) p.(Thr186Ile) g.71521598G>A - CITED1(NM_001144885.1):c.635C>T (p.(Thr212Ile), p.(Thr186Ile)) - CITED1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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