Full data view for gene ETHE1

Information The variants shown are described using the NM_014297.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.3G>T r.(?) p.(Met1?) Parent #1 - pathogenic g.44031327C>A g.43527175C>A - - ETHE1_000017 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119103249 Germline - 1/2776 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.3G>T r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.44031327C>A g.43527175C>A - - ETHE1_000017 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat28 PubMed: Kemp 2011, PubMed: Taylor 2014 2 affected M - Turkey - - - - - 2 Johan den Dunnen
-/. - c.6G>A r.(=) p.(=) Parent #1 - benign g.44031324C>T g.43527172C>T - - ETHE1_000004 - - - rs38110381 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.6G>A r.(?) p.(Ala2=) Unknown - benign g.44031324C>T g.43527172C>T ETHE1(NM_014297.5):c.6G>A (p.A2=) - ETHE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.131_132del r.(?) p.(Glu44ValfsTer62) Unknown - pathogenic g.44030765_44030766del g.43526613_43526614del - - ETHE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.184G>A r.(?) p.(Ala62Thr) Unknown - likely benign g.44030709C>T g.43526557C>T ETHE1(NM_014297.4):c.184G>A (p.A62T) - ETHE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.263C>T r.(?) p.(Ser88Leu) Parent #1 - VUS g.44030465G>A g.43526313G>A - - ETHE1_000003 Polyphen-2: benign (PSIC: 0,407), Shift:tolerated - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.278C>T r.(?) p.(Ser93Phe) Parent #1 - VUS g.44030450G>A g.43526298G>A - - ETHE1_000016 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199827754 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.278C>T r.(?) p.(Ser93Phe) Unknown - VUS g.44030450G>A - ETHE1(NM_014297.5):c.278C>T (p.(Ser93Phe)) - ETHE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475C>T r.(?) p.(Arg159Cys) Unknown - VUS g.44015619G>A g.43511467G>A ETHE1(NM_014297.4):c.475C>T (p.R159C) - ETHE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475C>T r.(?) p.(Arg159Cys) Unknown - VUS g.44015619G>A g.43511467G>A ETHE1(NM_014297.4):c.475C>T (p.R159C) - ETHE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476G>A r.(?) p.(Arg159His) Parent #1 - VUS g.44015618C>T g.43511466C>T - - ETHE1_000015 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs768669208 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.476G>A r.(?) p.(Arg159His) Unknown - VUS g.44015618C>T - ETHE1(NM_014297.4):c.476G>A (p.R159H) - ETHE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.487C>T r.(?) p.(Arg163Trp) Unknown - likely pathogenic g.44015607G>A g.43511455G>A ETHE1(NM_014297.4):c.487C>T (p.R163W) - ETHE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.505+1G>C r.spl? p.? Unknown - likely pathogenic g.44015588C>G - ETHE1(NM_014297.4):c.505+1G>C - ETHE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.509G>A r.(?) p.(Cys170Tyr) Both (homozygous) ACMG likely pathogenic (recessive) g.44013013C>T g.43508861C>T - - ETHE1_000019 - - - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG-I - WES EE NDAR03-1 - 2 affected (2M), unaffected carrier parents M yes Pakistan South asian - - - - 2 Arisha Rasheed
+?/. - c.509G>A r.(?) p.(Cys170Tyr) Both (homozygous) ACMG likely pathogenic (recessive) g.44013013C>T g.43508861C>T - - ETHE1_000019 - - - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG-I - WES EE NDAR03-2 - sib M yes Pakistan Asia-S - - - - 1 Arisha Rasheed
+/. - c.586G>A r.(?) p.(Asp196Asn) Parent #1 - pathogenic g.44012936C>T g.43508784C>T - - ETHE1_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.592dup r.(?) p.(His198Profs*23) Both (homozygous) ACMG pathogenic g.44012931dup g.43508779dup - - ETHE1_000007 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - EE - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-/. - c.595+47T>C r.(=) p.(=) Parent #1 - benign g.44012880A>G g.43508728A>G - - ETHE1_000001 - - - rs2682578 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.687G>T r.(?) p.(Leu229=) Unknown - likely benign g.44012121C>A g.43507969C>A ETHE1(NM_014297.4):c.687G>T (p.L229=) - ETHE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712+73A>G r.(=) p.(=) Parent #1 - VUS g.44012023T>C g.43507871T>C - - ETHE1_000005 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.712+91C>T r.(=) p.(=) Parent #1 - VUS g.44012005G>A g.43507853G>A - - ETHE1_000006 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.*2732A>G r.(=) p.(=) Unknown - VUS g.44008270T>C g.43504118T>C PHLDB3(NM_198850.3):c.1A>G (p.(Met1?)) - PHLDB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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