Genomic variant #0000330662

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.149361113T>A
DNA change (hg38) g.149981550T>A
Published as SLC26A2(NM_000112.3):c.1957T>A (p.C653S, p.(Cys653Ser))
ISCN -
DB-ID SLC26A2_000028 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 ?/. - c.1957T>A r.(?) p.(Cys653Ser)