Full data view for gene TMEM38B


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_018112.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Volodarsky 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI P3-IV:1 PubMed: Volodarsky 2013 - - - Israel Bedouin - - - - 1 Michael Volodarsky
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Volodarsky 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI P1-II:1 PubMed: Volodarsky 2013 - - - Israel Bedouin - - - - 1 Michael Volodarsky
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Volodarsky 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI P2-IV:1 PubMed: Volodarsky 2013 - - - Israel Bedouin - - - - 1 Michael Volodarsky
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Cabral 2016 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 1 PubMed: Cabral 2016 - - yes Saudi Arabia - - - - - 1 Raymond Dalgleish
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - OI AN_005820 PubMed: Essawi 2018 Additional two sisters of the proband were found homozygous for the same mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA arrayCGH, PCR, arraySEQ - - OI AN_005821 PubMed: Essawi 2018 An additional sister and two cousins of the proband were found homozygous for the same mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005822 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Paternal (inferred) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - OI AN_005823 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005824 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005825 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005826 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005827 PubMed: Essawi 2018 The probands sister harbors the same homozygous mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005828 PubMed: Essawi 2018 The probands OI diagnosed sister harbors the same homozygous mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005829 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005830 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005831 PubMed: Essawi 2018 Additional 2 cousins were found homozygous for the same deletion - - Palestine - - - - - 1 Sofie Symoens
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI No. 1 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - 1 Raymond Dalgleish
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