Full data view for gene TRIT1

Information The variants shown are described using the NM_017646.4 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.16G>A r.(?) p.(Ala6Thr) Unknown - VUS g.40349148C>T - TRIT1(NM_017646.6):c.16G>A (p.A6T) - TRIT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.22C>T r.(22c>u) p.(Arg8*) Parent #2 - pathogenic (recessive) g.40349142G>A g.39883470G>A - - TRIT1_000005 - PubMed: Kernohan 2017 - rs184469579 Germline yes - - - - DNA SEQ-NG Blood - mitochondrial respiratory chain deficiency Pat3/4 PubMed: Kernohan 2017 family, affected sister/brother F;M no United States white - - - - 2 Isabelle Thiffault
+?/. - c.22C>T r.(?) p.(Arg8*) Parent #1 - likely pathogenic g.40349142G>A g.39883470G>A - - TRIT1_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184469579 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.334del r.(?) p.(Arg112Glufs*36) Unknown - pathogenic g.40319724del - TRIT1(NM_017646.6):c.334del (p.(Arg112GlufsTer36)), TRIT1(NM_017646.6):c.334delC (p.R112Efs*36) - TRIT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.334del r.(?) p.(Arg112Glufs*36) Unknown - likely pathogenic g.40319724del - TRIT1(NM_017646.6):c.334del (p.(Arg112GlufsTer36)), TRIT1(NM_017646.6):c.334delC (p.R112Efs*36) - TRIT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368A>G r.(?) p.(Asn123Ser) Unknown - VUS g.40319688T>C - TRIT1(NM_017646.4):c.368A>G (p.(Asn123Ser)) - TRIT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596A>C r.(?) p.(His199Pro) Unknown - VUS g.40315898T>G - TRIT1(NM_017646.6):c.596A>C (p.(His199Pro)) - TRIT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.722A>G r.(?) p.(Asp241Gly) Unknown - likely pathogenic g.40313751T>C g.39848079T>C TRIT1(NM_017646.6):c.722A>G (p.D241G) - TRIT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.848T>G r.(848u>g) p.(Ile283Ser) Parent #2 - pathogenic (recessive) g.40313300A>C g.39847628A>C - - TRIT1_000002 - PubMed: Kernohan 2017 - rs199622789 Germline yes - - - - DNA SEQ-NG Blood - mitochondrial respiratory chain deficiency Pat1 PubMed: Kernohan 2017 - F no United States white - - - - 1 Isabelle Thiffault
+/. 7 c.856A>G r.(856a>g) p.(Lys286Glu) Parent #1 - pathogenic (recessive) g.40313292T>C g.39847620T>C - - TRIT1_000004 - PubMed: Kernohan 2017 - - Germline yes - - - - DNA SEQ-NG Blood - mitochondrial respiratory chain deficiency Pat3/4 PubMed: Kernohan 2017 family, affected sister/brother F;M no United States white - - - - 2 Isabelle Thiffault
+/. 8 c.968G>A r.(968g>a) p.(Arg323Gln) Both (homozygous) - pathogenic g.40312930C>T g.39847258C>T - - TRIT1_000006 not in 120 control chromosomes; whole exome sequencing and homozygosity mapping PubMed: Yarham 2014, Journal: Yarham 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Yarham 2014, Journal: Yarham 2014 2-generation family, 2 affected sister/brother, unaffected heterozygous carrier parents F;M yes United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
+?/. - c.968G>A r.(?) p.(Arg323Gln) Both (homozygous) ACMG likely pathogenic g.40312930C>T g.39847258C>T - - TRIT1_000006 - Pending VCV000492943.4 - Germline yes - - - - DNA SEQ-NG-I - - epilepsy - - - - yes Pakistan - - - - - 1 Sadaf Naz
+?/. - c.979C>T r.(?) p.(Arg327Ter) Unknown - likely pathogenic g.40312919G>A g.39847247G>A TRIT1(NM_017646.6):c.979C>T (p.(Arg327Ter), p.R327*) - TRIT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.979C>T r.(?) p.(Arg327Ter) Unknown - likely pathogenic g.40312919G>A - TRIT1(NM_017646.6):c.979C>T (p.(Arg327Ter), p.R327*) - TRIT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1204C>T r.(1204c>u) p.(Arg402*) Parent #2 - pathogenic (recessive) g.40309803G>A g.39844131G>A - - TRIT1_000003 - PubMed: Kernohan 2017 - rs367752391 Germline yes - - - - DNA SEQ-NG Blood - mitochondrial respiratory chain deficiency Pat2 PubMed: Kernohan 2017 - F no Canada white - - - - 1 Isabelle Thiffault
?/. - c.1228T>C r.(?) p.(Trp410Arg) Unknown - VUS g.40309779A>G - TRIT1(NM_017646.6):c.1228T>C (p.(Trp410Arg)) - TRIT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1256A>C r.(1256a>c) p.(His419Pro) Parent #1 - pathogenic (recessive) g.40307564T>G g.39841892T>G - - TRIT1_000001 - PubMed: Kernohan 2017 - rs566435653 Germline yes - - - - DNA SEQ-NG Blood - mitochondrial respiratory chain deficiency Pat1 PubMed: Kernohan 2017 - F no United States white - - - - 1 Isabelle Thiffault
+/. 11 c.1256A>C r.(1256a>c) p.(His419Pro) Parent #1 - pathogenic (recessive) g.40307564T>G g.39841892T>G - - TRIT1_000001 - PubMed: Kernohan 2017 - rs566435653 Germline yes - - - - DNA SEQ-NG Blood - mitochondrial respiratory chain deficiency Pat2 PubMed: Kernohan 2017 - F no Canada white - - - - 1 Isabelle Thiffault
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