Full data view for gene TMEM138

Information The variants shown are described using the NM_016464.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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     
-?/. - c.-18713T>C r.(?) p.(=) Unknown - likely benign g.61111319T>C - TKFC(NM_015533.4):c.983-9T>C - CYBASC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18299C>T r.(?) p.(=) Unknown - likely benign g.61111733C>T - TKFC(NM_015533.4):c.1228C>T (p.(Arg410Cys)) - CYBASC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9688C>T r.(?) p.(=) Unknown - VUS g.61120344C>T - TKFC(NM_001351978.2):c.1588C>T (p.(Pro530Ser)) - CYBASC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9488G>T r.(?) p.(=) Unknown - VUS g.61120544G>T - CYB561A3(NM_153611.4):c.461C>A (p.(Pro154His)) - CYBASC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102T>A r.(?) p.(Thr34=) Unknown - likely benign g.61131964T>A - TMEM138(NM_016464.4):c.102T>A (p.T34=), TMEM138(NM_016464.5):c.102T>A (p.T34=) - CYBASC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102T>A r.(?) p.(Thr34=) Unknown - likely benign g.61131964T>A - TMEM138(NM_016464.4):c.102T>A (p.T34=), TMEM138(NM_016464.5):c.102T>A (p.T34=) - CYBASC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129-126G>A r.(=) p.(=) Unknown - benign g.61133391G>A g.61365919G>A TMEM138(NM_016464.5):c.129-126G>A - TMEM138_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261G>A r.(?) p.(Val87=) Unknown - benign g.61133649G>A g.61366177G>A TMEM138(NM_016464.4):c.261G>A (p.V87=), TMEM138(NM_016464.5):c.261G>A (p.V87=) - TMEM138_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261G>A r.(?) p.(Val87=) Unknown - benign g.61133649G>A g.61366177G>A TMEM138(NM_016464.4):c.261G>A (p.V87=), TMEM138(NM_016464.5):c.261G>A (p.V87=) - TMEM138_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.287A>G r.(?) p.(His96Arg) Parent #1 - likely pathogenic g.61133675A>G g.61366203A>G - - TMEM138_000004 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907132 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.377-3C>G r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.61136066C>G g.61368594C>G NM_016464.4:c.377-3C>G:p.Ala126Glufs*15 - TMEM138_000005 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG0927 ,16DG0928 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - 2 LOVD
+/. - c.380C>T r.(?) p.(Ala127Val) Both (homozygous) - pathogenic g.61136072C>T g.61368600C>T NM_016464.4:c.380C>T - TMEM138_000007 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW256-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
-?/. - c.387G>A r.(?) p.(Leu129=) Unknown - likely benign g.61136079G>A g.61368607G>A TMEM138(NM_016464.4):c.387G>A (p.L129=), TMEM138(NM_016464.5):c.387G>A (p.L129=) - TMEM138_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387G>A r.(?) p.(Leu129=) Unknown - likely benign g.61136079G>A - TMEM138(NM_016464.4):c.387G>A (p.L129=), TMEM138(NM_016464.5):c.387G>A (p.L129=) - TMEM138_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.389A>G r.(?) p.(Tyr130Cys) Both (homozygous) - pathogenic g.61136081A>G g.61368609A>G - - TMEM138_000006 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam19PatIV6 PubMed: Suzuki 2016 4-generstion family, 4 affected (F, 3M) M yes Oman - - - - - 4 LOVD
+/. - c.389A>G r.(?) p.(Tyr130Cys) Both (homozygous) - pathogenic g.61136081A>G g.61368609A>G - - TMEM138_000006 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam19Pat2 PubMed: Suzuki 2016 sibling - yes Oman - - - - - 1 LOVD
-?/. - c.415G>A r.(?) p.(Val139Ile) Unknown - likely benign g.61136107G>A - TMEM138(NM_016464.5):c.415G>A (p.V139I) - CYBASC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463A>G r.(?) p.(Lys155Glu) Unknown - VUS g.61136155A>G - TMEM138(NM_016464.4):c.463A>G (p.K155E) - CYBASC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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