Full data view for gene TMEM147

Information The variants shown are described using the NM_032635.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-2052G>A r.(?) p.(=) Unknown - VUS g.36034590G>A - GAPDHS(NM_014364.5):c.917G>A (p.(Arg306Gln)) - GAPDHS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.19G>C r.(?) p.(Gly7Arg) Both (homozygous) - pathogenic (recessive) g.36036660G>C g.35545758G>C - - TMEM147_000001 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam10Ind16 PubMed: Thomas 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes United States - - - - - 2 Fernanda Soledad Jalil
+/. - c.19G>C r.(?) p.(Gly7Arg) Both (homozygous) - pathogenic (recessive) g.36036660G>C g.35545758G>C - - TMEM147_000001 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam10Ind17 PubMed: Thomas 2022 brother M yes United States - - - - - 1 Fernanda Soledad Jalil
+/. - c.19G>C r.(?) p.(Gly7Arg) Both (homozygous) - pathogenic (recessive) g.36036660G>C g.35545758G>C - - TMEM147_000001 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam11Ind18 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France;Spain - - - - - 1 Fernanda Soledad Jalil
+/. - c.63C>G r.(?) p.(Tyr21Ter) Paternal (confirmed) - pathogenic (recessive) g.36036704C>G g.35545802C>G - - TMEM147_000002 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam2Ind2 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Fernanda Soledad Jalil
+/. - c.100_118del r.(?) p.(Lys34SerfsTer33) Paternal (confirmed) - pathogenic (recessive) g.36036812_36036830del g.35545910_35545928del - - TMEM147_000003 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam1Ind1 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Fernanda Soledad Jalil
+/. - c.100_118del r.(?) p.(Lys34SerfsTer33) Parent #1 ACMG pathogenic g.36036812_36036830del g.35545910_35545928del - - TMEM147_000003 ACMG PVS1, PM2, PM3; more support for pathogenicity PubMed: Riquin 2023 - - Germline - - - - - DNA SEQ-NG - WES, WGS trio NDD Pat17 PubMed: Riquin 2023 patient F - France - - - - - 1 Johan den Dunnen
+/. - c.169_172del r.(?) p.(Phe57ProfsTer15) Both (homozygous) - pathogenic (recessive) g.36037449_36037452del g.35546547_35546550del - - TMEM147_000004 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam12Ind19 PubMed: Thomas 2022 2-generation family, affected brother/sister (deceased), unaffected heterozygous carrier parents M yes - - - - - - 2 Fernanda Soledad Jalil
+/. 4i c.344+5G>A r.(208_344del) p.(Glu70LeufsTer12) Both (homozygous) - pathogenic (recessive) g.36037715G>A g.35546813G>A - - TMEM147_000005 effect on splicing predicted from mini-gene splicing assay PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam8Ind12 PubMed: Thomas 2022 6-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents/relatives M yes - - - - - - 3 Fernanda Soledad Jalil
+/. 4i c.344+5G>A r.(208_344del) p.(Glu70LeufsTer12) Both (homozygous) - pathogenic (recessive) g.36037715G>A g.35546813G>A - - TMEM147_000005 effect on splicing predicted from mini-gene splicing assay PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam8Ind13 PubMed: Thomas 2022 sister F yes - - - - - - 1 Fernanda Soledad Jalil
+/. 4i c.344+5G>A r.(208_344del) p.(Glu70LeufsTer12) Both (homozygous) - pathogenic (recessive) g.36037715G>A g.35546813G>A - - TMEM147_000005 effect on splicing predicted from mini-gene splicing assay PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam8Ind14 PubMed: Thomas 2022 sister F yes - - - - - - 1 Fernanda Soledad Jalil
+/. - c.345-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.36037846G>T g.35546944G>T - - TMEM147_000006 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam9Ind15 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Fernanda Soledad Jalil
+/. - c.390G>A r.(?) p.(Trp130Ter) Both (homozygous) - pathogenic (recessive) g.36037892G>A g.35546990G>A - - TMEM147_000007 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam13Ind20 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam3Ind3 PubMed: Thomas 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes France - - - - - 1 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam4Ind4 PubMed: Thomas 2022 4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - 2 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam4Ind5 PubMed: Thomas 2022 brother M yes Egypt - - - - - 1 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam5Ind6 PubMed: Thomas 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - 1 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam6Ind7 PubMed: Thomas 2022 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - 4 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam6Ind8 PubMed: Thomas 2022 brother M yes Egypt - - - - - 1 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam6Ind9 PubMed: Thomas 2022 cousin F yes Egypt - - - - - 1 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam6Ind10 PubMed: Thomas 2022 cousin M yes Egypt - - - - - 1 Fernanda Soledad Jalil
+/. - c.398T>A r.(?) p.(Ile133Asn) Both (homozygous) - pathogenic (recessive) g.36037900T>A g.35546998T>A - - TMEM147_000008 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam7Ind11 PubMed: Thomas 2022 4-generation family, affected brothers (eldest deceased), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - 2 Fernanda Soledad Jalil
+/. - c.419dup r.(?) p.(Asn140LysfsTer21) Maternal (confirmed) - pathogenic (recessive) g.36037921dup g.35547019dup - - TMEM147_000009 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam2Ind2 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Fernanda Soledad Jalil
+/. - c.486C>G r.(?) p.(Tyr162Ter) Maternal (confirmed) - pathogenic (recessive) g.36038077C>G g.35547175C>G - - TMEM147_000010 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam1Ind1 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Fernanda Soledad Jalil
+/. - c.486C>G r.(?) p.(Tyr162Ter) Parent #2 ACMG pathogenic g.36038077C>G g.35547175C>G - - TMEM147_000010 ACMG PVS1, PM2, PM3 PubMed: Riquin 2023 - - Germline - - - - - DNA SEQ-NG - WES, WGS trio NDD Pat17 PubMed: Riquin 2023 patient F - France - - - - - 1 Johan den Dunnen
+/. - c.496C>T r.(?) p.(Arg166Trp) Both (homozygous) - pathogenic (recessive) g.36038087C>T g.35547185C>T - - TMEM147_000011 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam15Ind22 PubMed: Thomas 2022 5-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M yes - - - - - - 2 Fernanda Soledad Jalil
+/. - c.496C>T r.(?) p.(Arg166Trp) Both (homozygous) - pathogenic (recessive) g.36038087C>T g.35547185C>T - - TMEM147_000011 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam15Ind23 PubMed: Thomas 2022 brother M yes - - - - - - 1 Fernanda Soledad Jalil
+?/. - c.496C>T r.(?) p.(Arg166Trp) Unknown - likely pathogenic g.36038087C>T - TMEM147(NM_032635.4):c.496C>T (p.(Arg166Trp)) - TMEM147_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.540_543dup r.(?) p.(Val182LeufsTer66) Both (homozygous) - pathogenic (recessive) g.36038131_36038134dup g.35547229_35547232dup - - TMEM147_000012 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Fam14Ind21 PubMed: Thomas 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Fernanda Soledad Jalil
+?/. - c.*3661A>T r.(=) p.(=) Unknown - likely pathogenic g.36042010A>T - ATP4A(NM_000704.3):c.2889T>A (p.N963K) - ATP4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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