All transcript variants in gene MBTPS2

Information The variants shown are described using the NM_015884.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 6 c.686T>C - r.(?) Phe229Ser g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - Karl-Heinz Grzeschik
+?/. 6 c.686T>C - r.(?) Phe229Ser g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - Karl-Heinz Grzeschik
+?/. 6 c.686T>C - r.(?) Phe229Ser g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - Karl-Heinz Grzeschik
+?/. 6 c.686T>C - r.(?) Phe229Ser g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - 0 - Karl-Heinz Grzeschik
Legend