Variant #0000943937 (NC_000012.11:g.83290083G>A, NM_152588.1:c.1141G>A (TMTC2))

Individual ID 00132291
Chromosome 12
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.83290083G>A
DNA change (hg38) g.82896304G>A
Published as -
ISCN -
DB-ID TMTC2_000016
Variant remarks -
Reference PubMed: Eisenberger 2018
ClinVar ID -
dbSNP ID rs35725509
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01037 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-11-07 14:19:03 +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     
TMTC2 NM_152588.1 -?/. - c.1141G>A r.(?) p.(Val381Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133127 DNA SEQ-NG-I - - PTPRQ 18 Hanno Bolz


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