Variant #0000499394 (NC_000018.9:g.2738458G>A, NM_015295.2:c.3340G>A (SMCHD1))

Individual ID 00245552
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (!)
DNA change (genomic) (Relative to hg19 / GRCh37) g.2738458G>A
DNA change (hg38) g.2738460G>A
Published as -
ISCN -
DB-ID SMCHD1_000187 See all 2 reported entries
Variant remarks hypomethylation (D4Z4)
Reference PubMed: Lemmers 2019
ClinVar ID -
dbSNP ID rs778206654
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation 10%, FseI site (Southern blot), permissive 4qA (11U) allele
Average frequency (gnomAD v.2.1.1) 0.00011 View details
Owner Richard Lemmers
Database submission license No license selected
Created by Richard Lemmers
Date created 2019-04-09 12:07:45 +02:00 (CEST)
Date last edited 2020-05-26 09:49:46 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
SMCHD1 NM_015295.2 +/. - c.3340G>A - r.(?) p.(Val1114Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246664 DNA PCRdig;PFGE;SEQ;Southern - - SMCHD1 1 Richard Lemmers


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.