Genomic variant #0000094348

Individual ID 00063264
Chromosome 16
Allele Maternal (confirmed)
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.75576539C>T
DNA change (hg38) g.75542641C>T
Published as -
ISCN -
DB-ID TMEM231_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Joshi Stephen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM231 NM_001077416.2 +/. 4 c.784G>A r.(?) p.(Asp262Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000063395 DNA SEQ - - TMEM231 1 Joshi Stephen