Genomic variant #0000575269

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21871590G>A
DNA change (hg38) -
Published as MBTPS2(NM_015884.3):c.639G>A (p.S213=)
ISCN -
DB-ID MBTPS2_000063
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MBTPS2 NM_015884.3 -?/. - c.639G>A likely benign r.(?) p.(=)
YY2 NM_206923.3 -?/. - c.-3013G>A likely benign r.(?) p.(=)