Full data view for gene M1AP

Information The variants shown are described using the NM_138804.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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     
+/. - c.148T>C r.(?) p.(Ser50Pro) Parent #1 - pathogenic (dominant) g.74867255A>G g.74640128A>G - - M1AP_000007 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatP86 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Both (homozygous) - pathogenic (recessive) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatM330 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Both (homozygous) - pathogenic (recessive) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatM864 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Both (homozygous) - pathogenic (recessive) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatM1792 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Parent #1 - pathogenic (dominant) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatM1943 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Both (homozygous) - pathogenic (dominant) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatM2062 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Poland - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Parent #1 - pathogenic (dominant) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatY126 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Both (homozygous) - pathogenic (recessive) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatRU01691 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Netherlands - - 0 - - 1 Johan den Dunnen
+/. - c.676dup r.(?) p.(Trp226Leufs*4) Both (homozygous) - pathogenic (recessive) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatMI-0006-P PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.797G>A r.(?) p.(Arg266Gln) Parent #2 - pathogenic (recessive) g.74803718C>T g.74576591C>T - - M1AP_000001 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatM1943 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. - c.949G>A r.(?) p.(Gly317Arg) Parent #2 - pathogenic (recessive) g.74802690C>T g.74575563C>T - - M1AP_000002 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatY126 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.1166C>T r.(?) p.(Pro389Leu)] Both (homozygous) - pathogenic (recessive) g.74789459G>A g.74562332G>A - - M1AP_000005 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatT1024 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.1289T>C r.(?) p.(Leu430Pro) Parent #2 - pathogenic (recessive) g.74787411A>G g.74560284A>G - - M1AP_000003 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM PatP86 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.1435-1G>A r.spl p.? Both (homozygous) - pathogenic (dominant) g.74786002C>T g.74558875C>T - - M1AP_000004 - PubMed: Tu 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES INFM Fam1PatII116 PubMed: Tu 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes China Han Chinese - 0 - - 1 Johan den Dunnen
Legend   How to query