Full data view for gene CCDC103

Information The variants shown are described using the NM_213607.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-185216_*167120del r.0? p.0? Unknown - VUS g.42792021_43147305del g.44714653_45069937del - - DBF4B_000002 array 42792021–43147305x1 - - - Unknown - - - - - DNA arrayCNV - - MFDGA;MFDM - PubMed: Lines 2012 - F no - - - - - - 1 Johan den Dunnen
?/. - c.-10+2T>C r.spl? p.? Unknown - VUS g.42977229T>C g.44899861T>C CCDC103(NM_001258397.1):c.-10+2T>C (p.(=)) - EFTUD2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>A r.(?) p.(Arg3Lys) Unknown - VUS g.42978374G>A - CCDC103(NM_001258395.1):c.8G>A (p.(Arg3Lys)) - EFTUD2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>C r.(?) p.(Ala11Pro) Unknown - VUS g.42978397G>C - CCDC103(NM_001258395.1):c.31G>C (p.(Ala11Pro)) - EFTUD2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35T>C r.(?) p.(Leu12Ser) Unknown - VUS g.42978401T>C g.44901033T>C CCDC103(NM_001258395.1):c.35T>C (p.(Leu12Ser)) - CCDC103_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70G>A r.(?) p.(Glu24Lys) Unknown - VUS g.42978436G>A g.44901068G>A CCDC103(NM_001258395.1):c.70G>A (p.(Glu24Lys)) - EFTUD2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.277-63C>A r.(=) p.(=) Unknown - benign g.42979670C>A g.44902302C>A CCDC103(NM_001258397.3):c.277-16C>A - CCDC103_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329G>A r.(?) p.(Arg110Gln) Unknown - VUS g.42979785G>A - CCDC103(NM_213607.3):c.329G>A (p.(Arg110Gln)) - EFTUD2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460C>G r.(?) p.(His154Asp) Unknown - VUS g.42979916C>G - CCDC103(NM_001258395.1):c.460C>G (p.(His154Asp)) - EFTUD2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.461A>C r.(?) p.(His154Pro) Both (homozygous) ACMG pathogenic g.42979917A>C g.44902549A>C - - CCDC103_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CILD17 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.461A>C r.(?) p.(His154Pro) Unknown - VUS g.42979917A>C g.44902549A>C CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P) - CCDC103_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.461A>C r.(?) p.(His154Pro) Unknown - pathogenic g.42979917A>C g.44902549A>C CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P) - CCDC103_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.461A>C r.(?) p.(His154Pro) Unknown - pathogenic g.42979917A>C g.44902549A>C CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P) - CCDC103_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.710A>G r.(?) p.(Glu237Gly) Unknown - likely benign g.42980166A>G g.44902798A>G CCDC103(NM_001258395.1):c.710A>G (p.(Glu237Gly)) - CCDC103_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4G>A r.(=) p.(=) Unknown - benign g.42980189G>A g.44902821G>A CCDC103(NM_001258397.3):c.*483G>A - CCDC103_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2097A>C r.(=) p.(=) Unknown - likely benign g.42982282A>C - CCDC103(XM_005257352.1):c.1085A>C (p.(His362Pro)) - GFAP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4534A>G r.(=) p.(=) Unknown - VUS g.42984719A>G g.44907351A>G - - GFAP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5248T>C r.(=) p.(=) Unknown - VUS g.42985433T>C - GFAP(NM_001363846.1):c.1376A>G (p.E459G), GFAP(NM_002055.4):c.1256A>G (p.(Glu419Gly)) - GFAP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5248T>C r.(=) p.(=) Unknown - VUS g.42985433T>C - GFAP(NM_001363846.1):c.1376A>G (p.E459G), GFAP(NM_002055.4):c.1256A>G (p.(Glu419Gly)) - GFAP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5257C>T r.(=) p.(=) Unknown - likely benign g.42985442C>T g.44908074C>T GFAP(NM_001131019.2):c.*2062G>A (p.(=)), GFAP(NM_002055.4):c.1247G>A (p.R416Q) - GFAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5257C>T r.(=) p.(=) Unknown - VUS g.42985442C>T g.44908074C>T GFAP(NM_001131019.2):c.*2062G>A (p.(=)), GFAP(NM_002055.4):c.1247G>A (p.R416Q) - GFAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5258G>A r.(=) p.(=) Unknown - pathogenic g.42985443G>A - GFAP(NM_002055.5):c.1246C>T (p.R416W) - GFAP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5282T>C r.(=) p.(=) Unknown - VUS g.42985467T>C g.44908099T>C GFAP(NM_002055.5):c.1222A>G (p.I408V) - GFAP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5283G>A r.(=) p.(=) Unknown - likely benign g.42985468G>A g.44908100G>A GFAP(NM_002055.4):c.1221C>T (p.N407=) - GFAP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7324C>T r.(=) p.(=) Unknown - VUS g.42987509C>T g.44910141C>T GFAP(NM_001131019.2):c.1291G>A (p.G431S), GFAP(NM_001363846.1):c.1291G>A (p.E431K) - GFAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7324C>T r.(=) p.(=) Unknown - VUS g.42987509C>T - GFAP(NM_001131019.2):c.1291G>A (p.G431S), GFAP(NM_001363846.1):c.1291G>A (p.E431K) - GFAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7327G>A r.(=) p.(=) Unknown - likely benign g.42987512G>A g.44910144G>A GFAP(NM_001131019.2):c.1288C>T (p.(Arg430Cys)) - GFAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7331C>T r.(=) p.(=) Unknown - likely benign g.42987516C>T - GFAP(NM_001131019.2):c.1284G>A (p.(Pro428=)) - GFAP_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7339T>C r.(=) p.(=) Unknown - benign g.42987524T>C g.44910156T>C GFAP(NM_001131019.3):c.1276A>G (p.T426A) - GFAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7377C>T r.(=) p.(=) Unknown - likely benign g.42987562C>T g.44910194C>T GFAP(NM_001131019.2):c.1238G>A (p.(Arg413Gln)), GFAP(NM_001363846.1):c.1238G>A (p.R413Q) - GFAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7377C>T r.(=) p.(=) Unknown - likely benign g.42987562C>T g.44910194C>T GFAP(NM_001131019.2):c.1238G>A (p.(Arg413Gln)), GFAP(NM_001363846.1):c.1238G>A (p.R413Q) - GFAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7378G>A r.(=) p.(=) Unknown - VUS g.42987563G>A - GFAP(NM_001131019.2):c.1237C>T (p.(Arg413*)) - GFAP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7380_*7384del r.(=) p.(=) Unknown - VUS g.42987565_42987569del g.44910197_44910201del GFAP(NM_001131019.2):c.1233_1237del (p.(Ile412SerfsTer32)) - GFAP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7410T>G r.(=) p.(=) Unknown - VUS g.42987595T>G g.44910227T>G GFAP(NM_001131019.2):c.1205A>C (p.(Lys402Thr)) - GFAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7659C>T r.(=) p.(=) Unknown - VUS g.42987844C>T g.44910476C>T GFAP(NM_001131019.2):c.1171+139G>A (p.(=)) - GFAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7761C>T r.(=) p.(=) Unknown - likely benign g.42987946C>T g.44910578C>T GFAP(NM_001242376.1):c.1208G>A (p.S403N) - GFAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7777A>G r.(=) p.(=) Unknown - likely benign g.42987962A>G - GFAP(NM_001131019.2):c.1171+21T>C (p.(=)) - GFAP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7778C>G r.(=) p.(=) Unknown - likely benign g.42987963C>G - GFAP(NM_001242376.1):c.1191G>C (p.S397=) - GFAP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7821G>A r.(=) p.(=) Unknown - VUS g.42988006G>A - GFAP(NM_002055.5):c.1148C>T (p.T383I) - GFAP_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7825G>C r.(=) p.(=) Unknown - likely benign g.42988010G>C - GFAP(NM_002055.4):c.1144C>G (p.(Gln382Glu)) - GFAP_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7828C>T r.(=) p.(=) Unknown - VUS g.42988013C>T - GFAP(NM_002055.4):c.1141G>A (p.(Val381Met)) - GFAP_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7872G>T r.(=) p.(=) Unknown - VUS g.42988057G>T - GFAP(NM_001131019.2):c.1128-31C>A (p.(=)) - GFAP_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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