Genomic variant #0000255571

Chromosome 5
Allele Unknown
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.149360429A>G
DNA change (hg38) g.149980866A>G
Published as SLC26A2(NM_000112.3):c.1273A>G (p.N425D)
ISCN -
DB-ID SLC26A2_000020 See all 2 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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/. - c.1273A>G r.(?) p.(Asn425Asp)