Genomic variant #0000130066

Individual ID 00080868
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149360604T>C
DNA change (hg38) g.149981041T>C
Published as -
ISCN -
DB-ID SLC26A2_000035
Variant remarks -
Reference Trujillano et al., submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel Trujillano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/. - c.1448T>C ACMG: 5 r.(?) p.(Leu483Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080980 DNA SEQ;SEQ-NG - - SLC26A2 1 Daniel Trujillano