Genomic variant #0000333414

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21875648A>G
DNA change (hg38) -
Published as YY2(NM_206923.3):c.1046A>G (p.N349S, p.(Asn349Ser))
ISCN -
DB-ID MBTPS2_000057 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) 0.00047 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MBTPS2 NM_015884.3 ?/. - c.670+4027A>G VUS r.(=) p.(=)
YY2 NM_206923.3 ?/. - c.1046A>G VUS r.(?) p.(Asn349Ser)