Full data view for gene TRMU

Information The variants shown are described using the NM_018006.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.-128A>G r.(=) p.(=) Parent #1 - likely benign g.46731534A>G g.46335637A>G - - TRMU_000013 64 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141601555 Germline - 64/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 64 Mohammed Faruq
-?/. - c.-128A>G r.(=) p.(=) Both (homozygous) - likely benign g.46731534A>G g.46335637A>G - - TRMU_000013 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141601555 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.28G>T r.(?) p.(Ala10Ser) Parent #1 - VUS g.46731689G>T g.46335792G>T - - TRMU_000008 PolyPhen-2: possibly damaging (PSIC: 1,7) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.28G>T r.(?) p.(Ala10Ser) Parent #1 - benign g.46731689G>T g.46335792G>T - - TRMU_000008 217 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11090865 Germline - 217/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 217 Mohammed Faruq
-/. - c.28G>T r.(?) p.(Ala10Ser) Both (homozygous) - benign g.46731689G>T g.46335792G>T - - TRMU_000008 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11090865 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
?/. - c.82+20dup r.(=) p.(=) Parent #1 - VUS g.46731763dup g.46335866dup - - TRMU_000009 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.167A>T r.(?) p.(Asp56Val) Unknown - VUS g.46733760A>T - TRMU(NM_018006.4):c.167A>T (p.D56V) - GTSE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248+30T>C r.(=) p.(=) Parent #1 - VUS g.46733871T>C g.46337974T>C - - TRMU_000010 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.249-48del r.(=) p.(=) Parent #1 - VUS g.46739111del g.46343214del - - TRMU_000001 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.287A>G r.(?) p.(Asn96Ser) Both (homozygous) - pathogenic (recessive) g.46739197A>G g.46343300A>G - - TRMU_000015 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat24 PubMed: Taylor 2014 - M yes United Kingdom (Great Britain) Pakistan 1m - - - 1 Johan den Dunnen
-/. - c.387A>G r.(?) p.(Ala129=) Unknown - benign g.46742350A>G - TRMU(NM_018006.5):c.387A>G (p.A129=) - TRMU_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.442G>A r.(?) p.(Glu148Lys) Unknown - likely benign g.46742405G>A - TRMU(NM_018006.5):c.442G>A (p.E148K) - TRMU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.478+45T>G r.(=) p.(=) Parent #1 - benign g.46742486T>G g.46346589T>G - - TRMU_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.652-74G>A r.(=) p.(=) Parent #1 - VUS g.46747944G>A g.46352047G>A - - TRMU_000003 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.652-16C>T r.(=) p.(=) Parent #1 - VUS g.46748002C>T g.46352105C>T - - TRMU_000004 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.709C>A r.(?) p.(Leu237Met) Unknown - VUS g.46748164C>A g.46352267C>A TRMU(NM_018006.4):c.709C>A (p.L237M) - TRMU_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.835G>A r.(?) p.(Val279Met) Parent #1 - likely pathogenic g.46749726G>A g.46353829G>A - - TRMU_000014 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907022 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.835G>A r.(?) p.(Val279Met) Unknown - VUS g.46749726G>A - TRMU(NM_018006.4):c.835G>A (p.V279M) - TRMU_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.835G>A r.(?) p.(Val279Met) Both (homozygous) - pathogenic (recessive) g.46749726G>A g.46353829G>A NM_001282785:c.835G>A - TRMU_000014 - PubMed: Salinas 2020 RCV000023804.3 - Germline - - - - - DNA SEQ-NG - gene panel ? Pat43 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
?/. - c.841G>A r.(?) p.(Glu281Lys) Parent #1 - VUS g.46749732G>A g.46353835G>A - - TRMU_000005 p.Glu281Lys: PolyPhen-2: benign (PSIC: 0,341) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.900G>T r.(?) p.(Leu300=) Unknown - likely benign g.46751367G>T - TRMU(NM_018006.4):c.900G>T (p.L300=), TRMU(NM_018006.5):c.900G>T (p.(Leu300=)) - TRMU_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900G>T r.(?) p.(Leu300=) Unknown - likely benign g.46751367G>T - TRMU(NM_018006.4):c.900G>T (p.L300=), TRMU(NM_018006.5):c.900G>T (p.(Leu300=)) - TRMU_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 9 c.967C>T r.967c>u p.Arg323Trp Unknown - VUS g.46751434C>T g.46355537C>T n.1331C>T - TRMU_000012 0/100 controls - - - Unknown - - - - - DNA, RNA SEQ - - MLASA2 - - - - - Lebanon Lebanese - - - - 1 Isabelle Thiffault
-/. - c.*8G>C r.(=) p.(=) Parent #1 - benign g.46752911G>C g.46357014G>C - - TRMU_000006 - - - rs55905826 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.*352T>C r.(=) p.(=) Parent #1 - benign g.46753255T>C g.46357358T>C - - TRMU_000007 - - - rs9626855 Germline - frequency 0-79% - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
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