Full data view for gene CHCHD4

Information The variants shown are described using the NM_144636.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-5037G>A r.(?) p.(=) Unknown - likely benign g.14171082C>T g.14129582C>T TMEM43(NM_024334.2):c.162+21C>T, TMEM43(NM_024334.3):c.162+21C>T - TMEM43_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5037G>A r.(?) p.(=) Unknown - benign g.14171082C>T g.14129582C>T TMEM43(NM_024334.2):c.162+21C>T, TMEM43(NM_024334.3):c.162+21C>T - TMEM43_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5037G>A r.(?) p.(=) Unknown - benign g.14171082C>T g.14129582C>T TMEM43(NM_024334.2):c.162+21C>T, TMEM43(NM_024334.3):c.162+21C>T - TMEM43_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5034A>G r.(?) p.(=) Unknown - benign g.14171079T>C g.14129579T>C TMEM43(NM_024334.3):c.162+18T>C - TMEM43_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4975T>C r.(?) p.(=) Unknown - VUS g.14171020A>G g.14129520A>G TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V) - TMEM43_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4975T>C r.(?) p.(=) Unknown - likely benign g.14171020A>G g.14129520A>G TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V) - TMEM43_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4975T>C r.(?) p.(=) Unknown - likely benign g.14171020A>G - TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V) - TMEM43_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4975T>C r.(?) p.(=) Unknown - likely benign g.14171020A>G - TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V) - TMEM43_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4943C>T r.(?) p.(=) Unknown - likely benign g.14170988G>A - TMEM43(NM_024334.3):c.89G>A (p.S30N) - CHCHD4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4936G>A r.(?) p.(=) Unknown - benign g.14170981C>T g.14129481C>T TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W) - TMEM43_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4936G>A r.(?) p.(=) Unknown - likely benign g.14170981C>T g.14129481C>T TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W) - TMEM43_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4936G>A r.(?) p.(=) Unknown - benign g.14170981C>T g.14129481C>T TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W) - TMEM43_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4936G>A r.(?) p.(=) Unknown - benign g.14170981C>T g.14129481C>T TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W) - TMEM43_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4936G>A r.(?) p.(=) Unknown - likely benign g.14170981C>T g.14129481C>T TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W) - TMEM43_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4899G>C r.(?) p.(=) Unknown - benign g.14170944C>G - TMEM43(NM_024334.3):c.45C>G (p.V15=) - CHCHD4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4899G>C r.(?) p.(=) Unknown - likely benign g.14170944C>G - TMEM43(NM_024334.3):c.45C>G (p.V15=) - CHCHD4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4899G>T r.(?) p.(=) Unknown - benign g.14170944C>A g.14129444C>A TMEM43(NM_024334.2):c.45C>A (p.V15=), TMEM43(NM_024334.3):c.45C>A (p.V15=) - TMEM43_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4899G>T r.(?) p.(=) Unknown - likely benign g.14170944C>A g.14129444C>A TMEM43(NM_024334.2):c.45C>A (p.V15=), TMEM43(NM_024334.3):c.45C>A (p.V15=) - TMEM43_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4886C>T r.(?) p.(=) Unknown - VUS g.14170931G>A g.14129431G>A TMEM43(NM_024334.3):c.32G>A (p.R11Q) - TMEM43_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4335del r.(?) p.(=) Unknown - likely benign g.14170382del g.14128882del TMEM43(NM_024334.2):c.13-530delC - TMEM43_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-694C>G r.(?) p.(=) Unknown - benign g.14166739G>C g.14125239G>C - - TMEM43_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-646T>A r.(?) p.(=) Unknown - benign g.14166691A>T - TMEM43(NM_024334.3):c.-3A>T - CHCHD4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-646T>C r.(?) p.(=) Unknown - likely benign g.14166691A>G - TMEM43(NM_024334.3):c.-3A>G - CHCHD4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199C>T r.(?) p.(Pro67Ser) Unknown - VUS g.14154656G>A - CHCHD4(NM_144636.2):c.199C>T (p.P67S) - CHCHD4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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