Genomic variant #0000287999

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7495384_7495385del
DNA change (hg38) g.7592066_7592067del
Published as FXR2(NM_004860.3):c.1927-137_1927-136delGA
ISCN -
DB-ID FXR2_000001
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     
FXR2 NM_004860.3 -/. - c.1927-137_1927-136del r.(=) p.(=)
MPDU1 NM_004870.3 -/. - c.*4515_*4516del r.(=) p.(=)
SOX15 NM_006942.1 -/. - c.-2386_-2385del r.(?) p.(=)