Genomic variant #0000287997

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7496839G>A
DNA change (hg38) g.7593521G>A
Published as FXR2(NM_004860.3):c.1212C>T (p.S404=)
ISCN -
DB-ID FXR2_000004
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) 0.00781 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FXR2 NM_004860.3 -?/. - c.1212C>T r.(?) p.(Ser404=)
MPDU1 NM_004870.3 -?/. - c.*5970G>A r.(=) p.(=)
SOX15 NM_006942.1 -?/. - c.-3845C>T r.(?) p.(=)