Full data view for gene GRXCR1

Information The variants shown are described using the NM_001080476.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.25G>A r.(?) p.(Glu9Lys) Unknown - benign g.42895308G>A g.42893291G>A - - GRXCR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? ? c.25G>A r.(?) p.(Glu9Lys) Parent #1 - likely benign g.42895308G>A g.42893291G>A c.25G>A (ss182258860), p.Glu9Lys) - GRXCR1_000005 Heterozygous in 12 Dutch index patients and 14/360 Dutch control alleles. Homozygous in several members of family DEM 4349 and in 19/480 Pakistani control alleles PubMed: Schraders 2010 - - Germline - - - - - DNA SEQ - - ? - - - ? - - Dutch - - - - 1 LOVD
-/. - c.140C>T r.(?) p.(Ala47Val) Unknown - benign g.42895423C>T g.42893406C>T GRXCR1(NM_001080476.3):c.140C>T (p.A47V) - GRXCR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155T>C r.(?) p.(Ile52Thr) Unknown - VUS g.42895438T>C - GRXCR1(NM_001080476.2):c.155T>C (p.I52T) - GRXCR1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.229C>T r.(?) p.(Gln77*) Both (homozygous) - pathogenic (recessive) g.42895512C>T g.42893495C>T Gln77X - GRXCR1_000003 not in 480 controls PubMed: Schraders 2010 - - Germline - - - - - DNA SEQ - - DFNB25 - PubMed: Schraders 2010 - ? - - Pakistan - - - - 4 LOVD
+/. - c.229C>T r.(?) p.(Gln77Ter) Both (homozygous) - pathogenic (recessive) g.42895512C>T g.42893495C>T - - GRXCR1_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1679 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/-? 1 c.234T>C r.(=) p.(=) Parent #1 - likely benign g.42895517T>C g.42893500T>C - - GRXCR1_000020 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/? ? c.272G>T r.(?) p.(Gly91Val) Parent #1 - likely benign g.42895555G>T g.42893538G>T c.272G>T (ss182258861), p.Gly91Val - GRXCR1_000006 Found in heterozygous state in one index patient. Although this alteration was not present in 180 Dutch control individuals, it was present in the heterozygous state and in the homozygous state in 13 of 240 and in 1 of 240 normal-hearing Pakistani controls, respectively. PubMed: Schraders 2010 - - Germline - - - - - DNA SEQ - - ? - - - ? - - Dutch - - - - 14 LOVD
?/? 1 c.296T>C r.(?) p.(Ile99Thr) Parent #1 - VUS g.42895579T>C g.42893562T>C - - GRXCR1_000021 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? ? c.412C>T r.(?) p.(Arg138Cys) Both (homozygous) - pathogenic (recessive) g.42964936C>T g.42962919C>T p.(Arg138Cys) - GRXCR1_000004 - PubMed: Schraders 2010 - - Germline - 0/480 - - - DNA SEQ - - DFNB25 - - - M - - Pakistani - - - - 2 LOVD
+/+ 2 c.412C>T r.(?) p.(Arg138Cys) Parent #1 - pathogenic g.42964936C>T g.42962919C>T - - GRXCR1_000004 - MORL Deafness Variation Database, PubMed: Schraders 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Schraders 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.412C>T r.(?) p.(Arg138Cys) Parent #1 - pathogenic g.42964936C>T g.42962919C>T - - GRXCR1_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267606856 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.412C>T r.(?) p.(Arg138Cys) Unknown - likely pathogenic g.42964936C>T - GRXCR1(NM_001080476.2):c.412C>T (p.R138C) - GRXCR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.439C>T r.(?) p.(Arg147Cys) Unknown - pathogenic g.42964963C>T g.42962946C>T GRXCR1(NM_001080476.3):c.439C>T (p.R147C) - GRXCR1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.439C>T r.(?) p.(Arg147Cys) Parent #1 - pathogenic g.42964963C>T g.42962946C>T - - GRXCR1_000017 - MORL Deafness Variation Database, PubMed: Mori 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Mori 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.540A>G r.(?) p.(=) Unknown - VUS g.42965064A>G - GRXCR1(NM_001080476.3):c.540A>G (p.(Glu180=)) - GRXCR1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.627+8A>C r.(=) p.(=) Unknown - benign g.42965159A>C g.42963142A>C GRXCR1(NM_001080476.3):c.627+8A>C - GRXCR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.627+8A>C r.(=) p.(=) Unknown - benign g.42965159A>C g.42963142A>C GRXCR1(NM_001080476.3):c.627+8A>C - GRXCR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.627+19A>T r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.42965170A>T g.42963153A>T p.Gly210valfsX14 - GRXCR1_000002 - PubMed: Schraders 2010 - - Germline - 0/360 - - - DNA SEQ - - DFNB25 - - - F - - Dutch - - - - 1 LOVD
+/+ 2i c.627+19A>T r.(=) p.(=) Parent #1 - pathogenic g.42965170A>T g.42963153A>T - - GRXCR1_000002 - MORL Deafness Variation Database, PubMed: Schraders 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Schraders 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 2i c.628-11C>T r.(=) p.(=) Parent #1 - likely benign g.43022360C>T g.43020343C>T - - GRXCR1_000022 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.628-9C>A r.(=) p.(=) Unknown - pathogenic g.43022362C>A g.43020345C>A - - GRXCR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.628-9C>A r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.43022362C>A g.43020345C>A p.Gly210LeufsX5 - GRXCR1_000001 - PubMed: Schraders 2010 - - Germline - 0/360 - - - DNA SEQ - - DFNB25 - - - F - - Dutch - - - - 3 LOVD
+/+ 2i c.628-9C>A r.(=) p.(=) Parent #1 - pathogenic g.43022362C>A g.43020345C>A - - GRXCR1_000001 - MORL Deafness Variation Database, PubMed: Schraders 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Schraders 2010, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.628-1G>C r.spl? p.? Unknown - pathogenic g.43022370G>C g.43020353G>C GRXCR1(NM_001080476.2):c.628-1G>C - GRXCR1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.655G>A r.(?) p.(Glu219Lys) Both (homozygous) ACMG likely pathogenic (recessive) g.43022398G>A g.43020381G>A - - GRXCR1_000028 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4153 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 4 c.720del r.(?) p.(Ser241Leufs*32) Parent #1 - pathogenic g.43032404del g.43030387del - - GRXCR1_000023 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.739T>A r.(?) p.(Phe247Ile) Unknown - VUS g.43032423T>A g.43030406T>A - - GRXCR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.784C>T r.(?) p.(Arg262*) Parent #1 - pathogenic g.43032468C>T g.43030451C>T - - GRXCR1_000024 - MORL Deafness Variation Database, PubMed: Mori 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Mori 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.784C>T r.(?) p.(Arg262Ter) Both (homozygous) ACMG pathogenic (recessive) g.43032468C>T g.43030451C>T - - GRXCR1_000024 - PubMed: Wonkam 2022 - rs761349153 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood WES DFNB25 Fam5 PubMed: Wonkam 2022 3-generation family, 2 affected (1M,1F), unaffected carrier parents/relatives M no Ghana Africa - - - - 2 Yacouba Dia
?/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - VUS g.43032469G>A g.43030452G>A GRXCR1(NM_001080476.3):c.785G>A (p.R262Q) - GRXCR1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.813C>A r.(=) p.(=) Parent #1 - likely benign g.43032497C>A g.43030480C>A - - GRXCR1_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 4 c.*13C>G r.(=) p.(=) Parent #1 - VUS g.43032570C>G g.43030553C>G - - GRXCR1_000026 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
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