Full data view for gene KDM5C

Information The variants shown are described using the NM_004187.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24) Maternal (confirmed) ACMG pathogenic g.53250099dup g.53220917dup - - KDM5C_000138 - Leonardi 2022, submitted - - Germline - - - 0 - DNA SEQ-NG-I - X chromosome exome sequencing MRXSCJ PL-3 III:1 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland. Two generation family: asymptomatic mother; three maternal uncles with MRSXCJ M ? Poland - - 0 - - 3 Emanuela Leonardi
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24) Unknown ACMG pathogenic g.53250099dup g.53220917dup - - KDM5C_000138 - Leonardi 2022, submitted - - Germline yes - - 0 XCI Skewed (100%-0) DNA SEQ - - MRXSCJ PL-3 II:9 Leonardi 2022, submitted Dept. of Medical Genetics, Institute of Mother and Child, Poland F ? Poland - - 0 - - 2 Emanuela Leonardi
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24) Unknown ACMG pathogenic g.53250099dup g.53220917dup - - KDM5C_000138 - Leonardi 2022, submitted - - Germline yes - - 0 - DNA SEQ - - MRXSCJ PL-3 II:4 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland M ? Poland - - 0 - - 1 Emanuela Leonardi
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