Full data view for gene KCND1

Information The variants shown are described using the NM_004979.4 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.-298C>G r.(?) p.(=) Maternal (inferred) - VUS g.48826976G>C g.48970569G>C - - KCND1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-298C>G r.(?) p.(=) Maternal (inferred) - VUS g.48826976G>C g.48970569G>C - - KCND1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - VUS g.48826534G>A g.48970127G>A KCND1(NM_004979.5):c.145C>T (p.(Arg49Trp)) - KCND1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Thr57Met) Unknown - VUS g.48826509G>A - KCND1(NM_004979.5):c.170C>T (p.T57M) - KCND1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312T>C r.(?) p.(His104=) Unknown - likely benign g.48826367A>G - KCND1(NM_004979.5):c.312T>C (p.H104=) - KCND1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648G>C r.(?) p.(Arg216Ser) Unknown - likely benign g.48826031C>G - KCND1(NM_004979.5):c.648G>C (p.R216S) - KCND1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.772C>T r.(?) p.(Arg258Cys) Unknown - benign g.48825907G>A g.48969500G>A KCND1(NM_004979.5):c.772C>T (p.R258C) - KCND1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1122-463A>G r.(=) p.(=) Maternal (inferred) - VUS g.48823976T>C g.48967569= - - KCND1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1122-463A>G r.(=) p.(=) Maternal (inferred) - VUS g.48823976T>C g.48967569= - - KCND1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1164C>T r.(=) p.(=) Parent #1 - likely benign g.48823471G>A g.48967064G>A F388F - KCND1_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1303A>G r.(?) p.(Ile435Val) Unknown - VUS g.48823233T>C g.48966826T>C KCND1(NM_004979.5):c.1303A>G (p.(Ile435Val)) - KCND1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1333G>T r.(?) p.(Ala445Ser) Unknown - likely benign g.48823203C>A g.48966796C>A KCND1(NM_004979.5):c.1333G>T (p.A445S) - KCND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1396C>G r.(?) p.(Leu466Val) Parent #1 - VUS g.48823056G>C g.48966649G>C - - KCND1_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1402G>A r.(?) p.(Val468Ile) Unknown - likely benign g.48823050C>T g.48966643C>T KCND1(NM_004979.5):c.1402G>A (p.V468I) - KCND1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1604G>A r.(?) p.(Arg535His) Unknown - VUS g.48822576C>T g.48966169C>T - - KCND1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1616G>A r.(?) p.(Arg539His) Unknown - VUS g.48822564C>T - KCND1(NM_004979.5):c.1616G>A (p.R539H) - KCND1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1718+181dup r.(=) p.(=) Unknown - VUS g.48822296dup g.48965889dup - - KCND1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1718+182del r.(=) p.(=) Unknown - VUS g.48822280del g.48965873del - - KCND1_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*5191C>T r.(=) p.(=) Unknown - VUS g.48814651G>A g.48957389G>A OTUD5(NM_017602.3):c.182C>T (p.P61L) - OTUD5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5269C>T r.(=) p.(=) Unknown - VUS g.48814573G>A g.48957311G>A OTUD5(NM_001136157.1):c.260C>T (p.(Pro87Leu)) - OTUD5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*5323G>C r.(=) p.(=) Unknown - VUS g.48814519C>G g.48957257C>G OTUD5(NM_001136157.1):c.314G>C (p.(Gly105Ala)) - OTUD5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*5523G>A r.(=) p.(=) Unknown - VUS g.48814319C>T g.48957057C>T OTUD5(NM_001136157.1):c.514G>A (p.(Gly172Ser)) - OTUD5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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