Full data view for gene MARS2

Information The variants shown are described using the NM_138395.3 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.57T>C r.(?) p.(Ser19=) Unknown - likely benign g.198570186T>C - MARS2(NM_138395.3):c.57T>C (p.S19=) - MARS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Ala57=) Unknown - likely benign g.198570300G>A - MARS2(NM_138395.3):c.171G>A (p.A57=) - MARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.322C>T r.(?) p.(Leu108=) Unknown - benign g.198570451C>T g.197705727C>T MARS2(NM_138395.4):c.322C>T (p.L108=) - MARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic g.198570553C>T g.197705829C>T - - MARS2_000002 - PubMed: Webb 2015, Journal: Webb 2015 - - Germline yes - - - - DNA SEQ-NG-I - - SNHL - PubMed: Webb 2015, Journal: Webb 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no (Netherlands) - - - - - 2 Bryn Webb
-?/. - c.475C>G r.(?) p.(Leu159Val) Unknown - likely benign g.198570604C>G g.197705880C>G MARS2(NM_138395.3):c.475C>G (p.L159V) - MARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.550C>T r.(?) p.(Gln184*) Paternal (confirmed) - pathogenic g.198570679C>T g.197705955C>T - - MARS2_000001 - PubMed: Webb 2015, Journal: Webb 2015 - - Germline yes - - - - DNA SEQ-NG-I - - SNHL - PubMed: Webb 2015, Journal: Webb 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no (Netherlands) - - - - - 2 Bryn Webb
-?/. - c.606A>G r.(?) p.(Pro202=) Unknown - likely benign g.198570735A>G g.197706011A>G MARS2(NM_138395.3):c.606A>G (p.P202=) - MARS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720C>T r.(?) p.(His240=) Unknown - likely benign g.198570849C>T g.197706125C>T MARS2(NM_138395.3):c.720C>T (p.H240=) - MARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.770G>C r.(?) p.(Arg257Pro) Unknown - VUS g.198570899G>C - MARS2(NM_138395.4):c.770G>C (p.R257P) - MARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801G>C r.(?) p.(Pro267=) Unknown - likely benign g.198570930G>C - MARS2(NM_138395.3):c.801G>C (p.P267=) - MARS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1094A>G r.(?) p.(Tyr365Cys) Parent #1 - VUS g.198571223A>G g.197706499A>G - - MARS2_000012 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146365382 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.1194G>A r.(?) p.(Glu398=) Unknown - likely benign g.198571323G>A g.197706599G>A MARS2(NM_138395.3):c.1194G>A (p.E398=) - MARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1287C>T r.(?) p.(Phe429=) Unknown - benign g.198571416C>T g.197706692C>T MARS2(NM_138395.3):c.1287C>T (p.F429=) - MARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1360G>A r.(?) p.(Ala454Thr) Unknown - likely benign g.198571489G>A g.197706765G>A MARS2(NM_138395.3):c.1360G>A (p.A454T) - MARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1578_1596del r.(?) p.(Val527ThrfsTer48) Unknown - pathogenic g.198571707_198571725del g.197706983_197707001del MARS2(NM_138395.3):c.1578_1596delTGTCACCCCAAGCCTAGCT (p.V527Tfs*48) - MARS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1673A>G r.(?) p.(Tyr558Cys) Both (homozygous) - benign g.198571802A>G g.197707078A>G NM_001198534.1:c.15G>A (Trp5Ter) - MARS2_000018 - PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ-NG-I - - ? Fam3PatII2 2-generation family, affected fetus/boy, unaffected heterozygous carrier parents PubMed: Bayam 2024 M yes Saudi Arabia Arab - - - - 1 Zafer Yuksel
-?/. - c.1761G>T r.(?) p.(Leu587=) Unknown - likely benign g.198571890G>T - MARS2(NM_138395.3):c.1761G>T (p.L587=) - MARS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1774C>T r.(?) p.(Arg592Trp) Unknown - VUS g.198571903C>T g.197707179C>T MARS2(NM_138395.3):c.1774C>T (p.R592W) - MARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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