Genomic variant #0000434891

Individual ID 00000099
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.61165357T>G
DNA change (hg38) -
Published as T341G, L114R
ISCN -
DB-ID TMEM216_000005 See all 7 reported entries
Variant remarks Mutation leads to unstable protein product.
Reference PubMed: Valente 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/766 CON
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TMEM216 NM_016499.5 +/+? 4a c.158T>G - r.(341u>g) p.(Leu53Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000099 DNA SEQ-NG - - ARSB, ATP7B, ETFB, HESX1, HGSNAT, LAMA2, NHLRC1, SERPINA1, SLC26A2, TMEM216 10 LOVD-team, but with Curator vacancy