Variant #0000434891 (NC_000011.9:g.61165357T>G, NM_001173990.2:c.341T>G (TMEM216))

Individual ID 00000099
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.61165357T>G
DNA change (hg38) g.61397885T>G
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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Anne Polvi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2018-11-08 18:32:09 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM216 NM_001173990.2 +/+? - c.341T>G r.(341u>g) p.(Leu114Arg)



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 Global Variome, with Curator vacancy


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