Full data view for gene HIBCH

Information The variants shown are described using the NM_014362.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.2T>C r.(?) p.(Met1?) Unknown - benign g.191184475A>G g.190319749A>G HIBCH(NM_014362.3):c.2T>C (p.M1?) - HIBCH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.10C>T r.(?) p.(Arg4Cys) Unknown - likely benign g.191184467G>A g.190319741G>A HIBCH(NM_014362.3):c.10C>T (p.(Arg4Cys)) - HIBCH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79-7T>C r.(=) p.(=) Unknown - likely benign g.191161686A>G - HIBCH(NM_014362.3):c.79-7T>C - HIBCH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.113T>G r.(?) p.(Val38Gly) Unknown - pathogenic g.191161645A>C g.190296919A>C - - HIBCH_000006 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I Peripheral blood - epilepsy patient3 - - F no China - - 0 - - 1 Jinliang Li
-/. - c.136A>G r.(?) p.(Thr46Ala) Unknown - benign g.191161622T>C g.190296896T>C HIBCH(NM_014362.3):c.136A>G (p.T46A) - HIBCH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.410C>T r.(?) p.(Ala137Val) Unknown - VUS g.191152340G>A g.190287614G>A - - HIBCH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.452C>T r.(?) p.(Ser151Leu) Both (homozygous) ACMG likely pathogenic g.191125947G>A g.190261221G>A - - HIBCH_000008 ACMG: PM1,PM2,PP1,PP3; parents consanguenous, patient with normal development till age 6y - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
-?/. - c.465A>G r.(?) p.(Gln155=) Unknown - likely benign g.191125934T>C - HIBCH(NM_014362.3):c.465A>G (p.Q155=) - HIBCH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.725_726del r.(?) p.(Ser242Cysfs*10) Unknown ACMG likely pathogenic g.191114391_191114392del g.190249665_190249666del - - HIBCH_000011 no second variant detected in HIBCH - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. - c.750G>A r.(=) p.(=) Unknown - pathogenic g.191114366C>T g.190249640C>T - - HIBCH_000005 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I Peripheral blood - epilepsy patient3 - - F no China - - 0 - - 1 Jinliang Li
?/. - c.751T>C r.(?) p.(Ser251Pro) Unknown - VUS g.191110938A>G g.190246212A>G HIBCH(NM_014362.3):c.751T>C (p.S251P) - HIBCH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.853C>T r.(?) p.(Gln285Ter) Unknown - pathogenic g.191109651G>A g.190244925G>A HIBCH(NM_014362.3):c.853C>T (p.Q285*) - HIBCH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.913A>G r.(?) p.(Thr305Ala) Both (homozygous) - likely pathogenic g.191077780T>C g.190213054T>C - - HIBCH_000001 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
-?/. - c.*5127C>A r.(=) p.(=) Unknown - likely benign g.191064716G>T g.190199990G>T C2orf88(NM_001042519.1):c.130G>T (p.(Val44Phe)) - C2orf88_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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