Full data view for gene TXNL4A

Information The variants shown are described using the NM_006701.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. _1 c.-222_-189del r.=|red p.=|red Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 reduced expression mRNA PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline yes - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS001 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Germany - - - - - 2 Johan den Dunnen
+/. _1 c.-222_-189del r.=|red p.=|red Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 reduced expression mRNA PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS002 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Parent #2 - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS004 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Viet Nam - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.=|red p.=|red Paternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 reduced mRNA expression PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS005 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Paternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS006 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Netherlands - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline yes - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS007 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Maternal (confirmed) - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS009 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1 c.-222_-189del r.? p.? Parent #2 - pathogenic g.77748603_77748636del g.79988603_79988636del - - TXNL4A_000008 - PubMed: Wieczorek 2014, Journal: Wieczorek 2014, OMIM:var0001 - rs535089924 Germline - - - - - DNA SEQ, arraySNP, MLPA - - BMKS 25434003-FamBMKS010 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
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