Full data view for gene MCF2L

Information The variants shown are described using the NM_001112732.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1132G>C VUS r.(?) p.(Ala378Pro) Unknown g.113729327G>C - MCF2L:c.1126G>C (A376P) - MCF2L_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 19 c.2066A>G - r.(?) p.(Glu689Gly) Parent #1 g.113739210A>G g.113084896A>G - - MCF2L_000001 patient has 4 carrier sibs (F, 3M) with variant and same premature MI phenotype and an unaffected sib without variant and phenotype - - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I DNA from blood - MCI-1 - - - F no Netherlands Caucasian - 0 - - 1 M. Mahdi Motazacker
Legend