Full data view for gene ELMOD3

Information The variants shown are described using the NM_032213.4 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.-4191A>C r.(?) p.(=) Unknown - VUS g.85577994A>C - RETSAT(NM_017750.4):c.506T>G (p.(Met169Arg)) - chr2_024110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112G>A r.(?) p.(Ala38Thr) Unknown - VUS g.85589366G>A - ELMOD3(NM_001329791.1):c.112G>A (p.A38T) - ELMOD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.182A>C r.(?) p.(Tyr61Ser) Unknown - likely benign g.85590272A>C g.85363149A>C ELMOD3(NM_001329791.1):c.182A>C (p.Y61S) - ELMOD3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196C>T r.(?) p.(Arg66Cys) Parent #1 - benign g.85590286C>T g.85363163C>T - - ELMOD3_000008 34 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7564372 Germline - 34/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 34 Mohammed Faruq
-/. - c.209C>T r.(?) p.(Thr70Ile) Parent #1 - benign g.85595818C>T g.85368695C>T - - ELMOD3_000009 198 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs955592 Germline - 198/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 198 Mohammed Faruq
-/. - c.209C>T r.(?) p.(Thr70Ile) Both (homozygous) - benign g.85595818C>T g.85368695C>T - - ELMOD3_000009 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs955592 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.254T>G r.(?) p.(Ile85Ser) Unknown - VUS g.85595863T>G g.85368740T>G ELMOD3(NM_001329791.1):c.254T>G (p.I85S) - ELMOD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.269-9T>C r.(=) p.(=) Unknown - likely benign g.85596853T>C g.85369730T>C ELMOD3(NM_001329791.1):c.269-9T>C - ELMOD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.397G>A r.(?) p.(Ala133Thr) Unknown - VUS g.85598245G>A g.85371122G>A ELMOD3(NM_001329791.1):c.397G>A (p.A133T) - ELMOD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695C>T r.(?) p.(Pro232Leu) Unknown - likely benign g.85604554C>T - ELMOD3(NM_001329791.1):c.695C>T (p.P232L) - ELMOD3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.706G>A r.(?) p.(Glu236Lys) Parent #1 - likely benign g.85604565G>A g.85377442G>A - - ELMOD3_000010 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75956808 Germline - 4/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.716G>A r.(?) p.(Arg239His) Unknown - VUS g.85604575G>A g.85377452G>A ELMOD3(NM_001329791.1):c.716G>A (p.R239H) - ELMOD3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748T>C r.(?) p.(Phe250Leu) Unknown - VUS g.85616883T>C - ELMOD3(NM_001329791.1):c.748T>C (p.F250L) - CAPG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.794T>C r.(?) p.(Leu265Ser) Parent #1 - pathogenic g.85616929T>C g.85389806T>C - - ELMOD3_000007 - MORL Deafness Variation Database, PubMed: Jaworek 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Jaworek 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.865G>A r.(?) p.(Ala289Thr) Parent #1 - likely benign g.85617310G>A g.85390187G>A - - ELMOD3_000011 34 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34973107 Germline - 34/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 34 Mohammed Faruq
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