Full data view for gene EFHC1

Information The variants shown are described using the NM_018100.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
+/. 6 c.1056C>T r.(?) p.(Arg353Trp) Unknown - pathogenic (dominant) g.52329832C>T - Arg353Trp - EFHC1_000034 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370833-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1056C>T r.(?) p.(Arg353Trp) Unknown - pathogenic (dominant) g.52329832C>T - Arg353Trp - EFHC1_000034 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370834-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1056C>T r.(?) p.(Arg353Trp) Unknown - pathogenic (dominant) g.52329832C>T - Arg353Trp - EFHC1_000034 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370835-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
+/. 6 c.1056C>T r.(?) p.(Arg353Trp) Unknown - pathogenic (dominant) g.52329832C>T - Arg353Trp - EFHC1_000034 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Raju 2017, Journal: Raju 2017 - - Germline - 1/480 cases JME - 0 - DNA SEQ - - EJM 28370836-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - 1 Sourav Nayak
Legend   How to query